DNA Today: A Genetics Podcast

We explore a remarkable story of genetics, family history, and groundbreaking research with Dr. Susan Liebman and Dr. Elizabeth McNally. Together, they’ve identified a genetic mutation with life-saving implications for families affected by inherited heart conditions, like Dr. Liebman’s own.

Meet Our Guests:

Dr. Susan Liebman is a trailblazing molecular geneticist who uses yeast as a model organism to study prions and human protein misfolding diseases such as ALS and Alzheimer’s. Her research also extends to the prion form of the cancer gene p53. With over 100 publications in leading journals, including Nature, Science, and Cell, and more than $13 million in research funding, her contributions to the field are substantial. Susan began her scientific journey as one of MIT’s early female undergraduates (B.S. 1968) and went on to earn advanced degrees from Harvard (M.S. 1969) and the University of Rochester (Ph.D. 1974) medical schools. In addition to her research, she taught genetics to undergraduate and graduate students for more than 35 years.

Dr. Elizabeth McNally directs the Center for Genetic Medicine at Northwestern University’s Feinberg School of Medicine in Chicago and is the Elizabeth J. Ward Professor of Genetic Medicine. She is a practicing cardiologist with expertise in cardiovascular genetics. As a clinician, she developed practices for integrating genetic information into cardiovascular care. She has a special interest in neuromuscular diseases like muscular dystrophy and their accompanying cardiovascular complications.

Episode Highlights:

- Family Medical History: Dr. Liebman shares the powerful backstory behind “The Dressmaker’s Mirror” and how a century-old family secret shaped her journey in genetic research and advocacy.

- Discovering the FLNC Mutation: Dr. McNally discusses the process of uncovering this mutation in Dr. Liebman’s family, highlighting the challenges and breakthroughs in genetic testing and the importance of tracking family medical history.

- Genetic Screening and Personalized Medicine: The guests examine the future of genetic testing, including the ethical complexities and benefits of population screening for high-risk groups, like Ashkenazi Jews, who have a higher frequency of the FLNC mutation.

- Preventive Care in Cardiology: Dr. McNally shares insights on integrating genetic data into cardiology, from identifying cardiomyopathy risks to offering personalized care for patients.

- Barriers to Genetic Testing: They address why only a small percentage of cardiomyopathy cases are referred for genetic testing and discuss ways to increase access and education around genetic testing’s role in heart health.

- The Future of Gene Therapy: Hear Dr. McNally’s outlook on gene therapy advancements for actionable genes, including the latest on FLNC’s addition to the ACMG list of actionable genes.

Enter Book Giveaway!

You can win a free copy of “The Dressmaker’s Mirror”! Head over to DNA Today’s social media to enter the giveaway. You can also enter the Goodreads giveaway for additional opportunities. Can’t wait to see if you won? Buy a copy of the book through the publisher (with code RLFANDF30) or on Amazon. 

More Info

You can learn more about the author Dr. Susan Liebman, on her website here. If you are interested in booking her as a speaker check out her Media Kit here, you can reach out to our host Kira Dineen ([email protected]) as she is also her Book Launch Agent! 

Keep up with Dr. Elizabeth McNally on X @EMMcNally. 

References

Golbus JR, Puckelwartz MJ, Dellefave-Castillo L, Fahrenbach JP, Nelakuditi V, Pesce LL, Pytel P, McNally EM. Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy. Circ Cardiovasc Genet. 2014 Dec;7(6):751-759. doi: 10.1161/CIRCGENETICS.113.000578. Epub 2014 Sep 1. PMID: 25179549; PMCID: PMC4270910. 

Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, Johnson B, Morales A, Regalado E, Rojahn S, Vatta M, Nussbaum RL, McNally EM. Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing. JAMA Cardiol. 2022 Sep 1;7(9):966-974. doi: 10.1001/jamacardio.2022.2455. PMID: 35947370; PMCID: PMC9366660.

DNA Today Episode #175 Hereditary Cancer Variant Network with Brian Shirts. And our next episode will be featuring Connect My Variant’s founder Dr. Brian Shirts again! 

DNA Today Episode #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1

DNA Today Episode #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2

SecuriGene - a company that will bank your DNA. 

Jackson Laboratories and Northwestern Medicine’s Course “Implementing Cardiogenomics in Clinical Practice” 

American Heart Association 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We’re back from the American Society of Human Genetics (ASHG) 2024 Annual Meeting in beautiful Denver, Colorado! This episode recaps the highlights, discussions, and discoveries from five packed days of cutting-edge genetics and genomics science. Every year, ASHG brings together researchers, clinicians, students, and industry leaders to share advancements, and this year was no exception.

In this recap, our Kira Dineen reflects on the vibrant atmosphere at ASHG and shares conversations with conference attendees, each offering unique perspectives on the sessions and workshops they found most impactful. We had the chance to connect with some familiar faces, including previous podcast guests and sponsors, as well as meet new colleagues who shared inspiring insights into the future of genetics.

You might notice some background chatter—it captures the energy and dynamism of ASHG’s bustling exhibit hall and session rooms!

Presentations Recapped

“Mendel’s Peas as Exemplar or Exception” by Dr. Gregory Radick 

“Sickle Cell Disease: A Journey Through the Complexitites of Genetics” by Dr. Athena Starland-Davenport 

Resources

Disputed Inheritance: The Battle over Mendel and the Future of Biology By Dr. Gregory Radick

“The Genetics Podcast” By Sano Genetics (Hear Kira’s most recent appearance on Ep 134)

Science Geek Games’ Variation – A DNA Matching Card Game

NIH Small Business Funding/Grants

Episode Referrenced

#157 NSGC 2021 Recap

#191 Overturning Roe v. Wade with Laura Hercher

#284 IVF Implications of Alabama's Frozen Embryo Ruling with Laura Hercher

#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1

#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2

#305 Transformative Therapies for Sickle Cell Disease with “Through The Genes”

#307 NSGC 2024 Recap

Fact Check

• Kira estimated that Mendel was studying genetics through peas in the 1800s, and she was right. For eight years, starting in 1857, Medel studied the peas he grew in the garden of his monastery.

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Dr. Joanne Donovan, Chief Medical Officer at Edgewise Therapeutics, join the show to discuss Becker Muscular Dystrophy (Becker) and emerging treatments.

We dive into Dr. Donovan’s role at Edgewise and the company’s research into treatments for Becker and Duchenne Muscular Dystrophy. At the forefront of this research is sevasemten, an investigational fast myosin inhibitor designed to combat contraction-induced muscle injury, which plays a significant role in muscle deterioration for those living with Becker. 

Please note that sevasemten is an investigational agent that is not approved for use by any regulatory authority in any territory. All information shared in this podcast episode is intended for healthcare providers only. This episode is for informational purposes only and should not be considered professional medical advice. Always consult your doctor or qualified medical professional for any questions that you may have regarding a medical condition, procedure, treatment or trial.

Joanne M. Donovan, M.D., Ph.D., has served as Chief Medical Officer at Edgewise Therapeutics since 2021. Most recently, Dr. Donovan served as Chief Medical Officer and Senior Vice President, Clinical Development at Catabasis Pharmaceuticals. Since 1989, she has been a staff physician at the VA Boston Healthcare System, where she was formerly Chief of Gastroenterology. Dr. Donovan has held an appointment at Harvard Medical School since 1990, most recently as associate clinical professor of medicine. From 1998 to 2011, Dr. Donovan served in positions of increasing responsibility, ultimately as vice president of clinical development, at Genzyme, a biotechnology company, which she joined through its acquisition of GelTex Pharmaceuticals. Dr. Donovan holds a Ph.D. in medical engineering and medical physics from the Massachusetts Institute of Technology, an M.D. from Harvard Medical School and an S.B. from the Massachusetts Institute of Technology. She completed residency training in internal medicine and a fellowship in gastroenterology at the Brigham and Women's Hospital.'

Key Discussion Points:

• Becker Muscular Dystrophy Overview: Becker is a genetic, progressive disease that leads to muscle degeneration and weakness. Symptom onset varies and can be debilitating, with patients losing muscle function over time.
• The Science Behind Becker: Muscle breakdown in Becker is driven by dysfunctional dystrophin, a protein that supports muscle fibers during contraction. Without proper dystrophin function, repeated contraction-induced injury leads to muscle fiber loss and replacement by fibrosis and fat.
• Edgewise Therapeutics’ Research: The investigational therapy sevasemten has shown promising results in recent trials, including stabilization of functional assessments and reductions in muscle damage biomarkers. Dr. Donovan shares how Edgewise is progressing to the pivotal Phase 2 GRAND CANYON study, which is now enrolling ambulatory adults with Becker.

If you are a healthcare provider with patients who may benefit from this research, you can refer them to the study through the information below. 

1) Contact our Edgewise team by email at [email protected].

2) Have your patient go to beckergcstudy.com, where they can contact someone from patient support.

3) Or submit your contact information via beckergcstudy.com/hcp and someone will reach out to you.

More DNA Today Episodes on Muscular Dystrophies:

#156 Rich Horgan on Duchenne Muscular Dystrophy (DMD)

#202 Duchenne Muscular Dystrophy with Ann Martin and Madhuri Hegde

Stay tuned for the next new episode of DNA Today on Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We are learning about an exciting, newer career in the genomics field: genome health analyst. This role is rapidly gaining importance as the demand for interpreting personal genomic data continues to grow, and healthcare systems need more professionals trained to make this data clinically actionable. 

Joining us are Dr. Claire Davis and Anna Cantor, Co-Directors of the new Master's of Science in Genome Health Analysis program, which is a collaboration between NYU Grossman School of Medicine and Sarah Lawrence College. 

Claire Davis has worked with the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College for nine years in various capacities. She is now Director of Curriculum for the genetic counseling program and the Institute for Genomics, as well as co-director of the Genome Health Analysis master's program created in collaboration with NYU Langone's School of Medicine. Claire previously worked as a cancer counselor and assistant director of the genetic counseling training program at Mount Sinai. She earned her doctorate in adult education and leadership from Teachers College, Columbia University, completing a dissertation on the professional learning of genetic counselors. She continues to volunteer for initiatives related to genetic counselors' learning and development.

Anna Cantor is the Program Director of Genetics Education at the Center for Human Genetics and Genomics at NYU Grossman School of Medicine and co-director of the Genome Health Analysis Master’s program.. She is a board-certified genetic counselor with clinical experience in cancer and autoinflammatory genetics. . Throughout her career, Anna has trained genetic counseling students and  is now creating  education initiatives for graduate and medical students, as well as  healthcare professionals that aim to increase access to accurate genetics information throughout NYU Langone Health. Anna received her MS in Human Genetics from Sarah Lawrence College and her MA in Behavioral Neuroscience from the University of British Columbia in Vancouver, Canada. She completed her BA Hons in Psychology from Concordia University in Montreal, Canada.

In This Episode, We Discuss:

• What motivated the creation of the MS in Genome Health Analysis program
• Career opportunities for graduates in healthcare and genomics
• The integration of bioinformatics, data science, and patient care in the role of a genome health analyst
• How the collaboration between NYU and Sarah Lawrence College shapes the curriculum
• Key courses that prepare students for real-world applications
• Handling and interpreting vast amounts of genomic data
• The significance of emerging ‘omics technologies and genome variant interpretation
• Application tips for prospective students, including types of experiences to prepare them

Going to be at ASHG 2024? Come find Anna Cantor on November 7th with her poster from 2:30-4:30pmMT! Our host Kira Dineen will also be at the conference. So be sure to say hi if you see her. And she is recording sound bites on what you learned at the conference.

You can learn more about the Master's of Science in Genome Health Analysis program here. You can contact Anna Cantor directly at [email protected] and Dr. Claire Davis at [email protected]. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We're excited to announce the launch of our new Mock Genetic Counseling Session series! In our first installment, genetic counselor Catherine Mayo and student Ariel Modeste perform a mock cancer genetic counseling session, offering insight into how genetic testing for cancer risks is discussed with patients. This session was recorded in person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. 

We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.

Catherine Mayo (she/her), is a Genomic Science Liaison at a genetic testing company. She is a board-certified genetic counselor interested in rare diseases, increased access to genetics services, and social justice in healthcare. She has previous experience in biotechnology and drug development in the Bay Area. 

Check out Catherine’s two other appearances on DNA Today. In Episode #110 we chatted about the film Gattaca, mostly how much technology in the film is no longer fiction. We recorded this when we were roommates in grad school together and are members of Sarah Lawrence’s Class of 2020. Catherine more recently shared insight in Episode #259, which was a recap and reflection on the 2023 National Society of Genetic Counselors’ (NSGC) Annual Conference. 

Ariel Modeste (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Ariel is a graduate of LaGrange College with a B.S. in Biology and a double minor in psychological science and chemistry. The premise of this mock case was Ariel’s work as part of her internship with DNA Today. 

Specialty: Cancer

Indication: A 26-year-old unaffected female is seen due to a family history of cancer.

Patient Name: Estelle Woods

Outline:

• Contracting 
  • Introduction to each other
  • Why were they referred to genetic counseling?
  • Explain what the session will entail
  • Ask if patient has any questions
• Medical Intake
• Family History 
  • Take a pedigree
• Patient Education
  • The purpose of all the questions that were asked
  • Genetics overview
  • Hereditary cancer risk factors and signs
• Risk Assessment 
  • Review the patient’s pedigree and explain what is suspicious and what isn’t and why. 
  • What you would test for in the patient
  • Who the best person in the family is to be tested 
• Decision Making
  • Explain genetic testing
  • Explain the 3 possible results
  • Explain what each result would mean for the individual and their family members
  • Ask patient if they would like to pursue the genetic testing
• Insurance and cost 
  • NCCN criteria
  • Potential insurance coverage
  • Cash option without insurance
  • GINA
• Consenting
  • Signing consent forms
• Results
  • Turn around time
  • How results are provided
• Recap information and final questions

Stay tuned for the continuation of our mock genetic counseling session series! Over the next year we will be bringing you more mock sessions inspired by a cumulation of cases. 

Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com.

The next new episode of DNA Today will drop on Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We explore the powerful work of Father Founded, an organization dedicated to reuniting Amerasian families separated by war. It shares the heartwarming story of Scott McMullen, a retired firefighter and veteran, who discovered his long-lost daughter through the group's efforts. Marny Klump, a dedicated volunteer, uses her skills in genetic genealogy to help Amerasians locate their biological fathers across continents.

I do want to offer a warning that our conversation includes sensitive topics like young adult death, sexual assault, and childhood abuse. These topics may not be suitable for children or people who have had these experiences themselves. 

Scott's journey involves fathering a son in the Philippines, marrying the mother to bring him to the U.S., and later learning he had another child in the Philippines and connecting with his daughter Sherlyn, who was adopted and raised in another country. Despite challenges, Scott and Sherilyn have formed a close bond, united by their shared Amerasian experience. Scott Mcmullen is a father of 6, who retired in 2020 after 40 years as a Firefighter/EMT. He served 26 years in The Air Force Reserves as a Firefighter. He was elected to and served eight years on the Mount Vernon Washington city Council. He then recruited and helped the first three Hispanic people get elected to the Mount Vernon, Washington City Council. I thought it was unfair to have no Hispanic representation when his city’s population was 36% Hispanic. He and his brother flew to the Philippines to meet his biological daughter and her family. He lives part time in Angeles city, Philippines and was honored to have attended his grandchild's wedding!

Marny Klump, a Father Founded volunteer, shares how she became involved in reuniting families through genealogy and DNA testing, driven by the belief that everyone has the right to know their origins. The discussion emphasizes the importance of accessing biological family history and the challenges faced in the process. Marny was born in Toronto, Canada and moved to the United States when she was 16. She and her family currently live outside of Richmond, Virginia. Marny started doing her husband’s family tree in 2014. In early 2016, she started working with a group to help people put the pieces of their puzzles together. In August 2016, she learned how to use DNA to help those with misattributed parentage locate their biological family members. In April 2020, one of those cases led her to Father Founded, where she has been volunteering to help Amerasians with their quest to know their birth fathers.

You can learn more about Father Founded on their website here and donate here.

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Two-time Emmy-winning celebrity chef Sandra Lee joins the show. Known for her innovative “Semi-Homemade” cooking style that revolutionized how millions approach the kitchen, Sandra is not just a culinary icon but also a dedicated advocate for health and wellness. 

In honor or breast cancer awareness month, we chat about her courage and openness in sharing her personal battle with breast cancer, most notably through her raw and impactful HBO documentary “RX: Early Detection – A Cancer Journey with Sandra Lee,” have made her a powerful voice in the fight for early detection and cancer awareness. 

As if that wasn’t enough, Sandra is the creator and co-host of the new hit Netflix show, “Blue Ribbon Baking Championship”. The show has already cracked a “Top 10” list on Netflix. 

In this conversation, we’re diving into Sandra’s incredible journey—from her rise to fame as a beloved television personality to her deeply personal fight against cancer and her ongoing efforts to champion health causes. 

A note on the audio quality: As Sandra Lee mentions during the show, she was on vacation when we recorded this and her only option was to call in for the interview. So we did our best to improve her audio file, but it’s not our typical sound. 

During the episode we couldn’t recall the name of the dog show on Thanksgiving, it’s The National Dog Show. 

We also mentioned Sandra Lee’s first podcast appearance was on this episode of The Kim Gravel Show. 

And Sandra Lee was close, it was a 7 year old who won a blue ribbon at a county fair this summer, here’s the story. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

After discovering she’s a carrier for Congenital Myasthenic Syndromes, host Kira Dineen sought out to learn more. She met a leading expert in CMS, Dr. Hanns Lochmüller. 

Dr. Lochmüller is a neurologist and clinical academic specializing in genetic neuromuscular disorders and rare diseases. He is a Senior Scientist at CHEO Research Institute. He is also a Professor of Neurology at the University of Ottawa Faculty of Medicine and The Ottawa Hospital Department of Medicine. 

CMS is a group of rare inherited neuromuscular conditions caused by defects at the neuromuscular junction. While CMS shares similarities with Myasthenia Gravis (MG), it has distinct genetic causes and onset patterns that make diagnosis and treatment challenging.

Dr. Lochmüller walks us through the evolution of CMS research, highlighting the advances made possible by new sequencing technologies. Thirty years ago, only two genes were known to cause CMS; now, there are 35 identified genetic causes. This episode offers a comprehensive look at CMS symptoms, diagnostic approaches, and treatment strategies, as well as the important role genetic testing plays in accurately diagnosing and managing CMS.

Topics Covered in This Episode:

• Dr. Lochmüller’s Background and Expertise: How his work in CMS has evolved over the past 30 years.
• Key Differences Between CMS and Myasthenia Gravis (MG): The autoimmune vs. genetic origins, age of onset, and differences in symptoms between the two conditions.
• Genetic Testing for CMS: How advancements in genetic testing have transformed the diagnosis of CMS and allowed clinicians to better differentiate it from other neuromuscular disorders.
• Challenges in Diagnosing CMS: Why some patients are misdiagnosed with muscular dystrophies or unspecific myopathies, and how larger neuromuscular panels and exome sequencing are improving diagnosis.
• Common Symptoms of CMS: Ptosis, muscle weakness, and fatigue are key indicators, often seen in the absence of muscle degeneration.
• Treatment Approaches for CMS: How treatment depends on the genetic mutation, with drugs like Mestinon benefiting some patients but worsening symptoms in others, such as those with DOK7-related CMS.
• The Role of Repetitive Nerve Stimulation Tests: How this diagnostic tool helps identify neuromuscular transmission defects.
• Importance of Genetic Diagnosis: How a full genetic diagnosis can provide clarity for patients and improve quality of life by guiding targeted treatment options.
• Treatabolome Database: A resource that links specific genetic mutations to the most effective treatments for CMS.

Dr. Lochmüller also shares insights into the variability of CMS symptoms and the resilience of patients living with the condition. He highlights the importance of a genetic diagnosis, as it often brings relief and provides a roadmap for effective management of the disease.

Learn more about ongoing research in CMS  here and specifically for the CMS Natural History Study here. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We’re recapping and reflecting on the 43rd National Society of Genetic Counselors (NSGC) Annual Conference that took place in vibrant New Orleans. As always, the sense of community was incredible, and this year was no exception. 

I had the privilege of reconnecting with past guests, sponsors of the show, classmates, and meeting new people. It’s always surreal to meet so many listeners in person—thank you for all your kind words and support! Producing a weekly episode since 2022 has been a labor of love, and this conference gave me the extra boost of motivation to keep going strong.

In this recap episode, I had the chance to chat with attendees about their favorite moments from the conference. All these mini interviews were with genetic counseling students who shared what they learned at the conference. Students were from three programs: University of Pittsburgh, Baylor College of Medicine, and Sarah Lawrence College. 

We also took a deeper dive into one of the standout sessions, “Just Because We Can, Should We? Examining PGT Through the Lens of Ableism, Access, and Clinical Actionability” which was moderated by Courtney Studwell, MS, CGC. I caught up with another friend, Jovanni Cuevas, MS, CGC, to debrief on what we learned from the session. 

All these interviews were recorded in person at the conference, so you might hear a little background noise, but it adds to the ambiance of the lively event!

- “NSGC 2024 State of the Society Address” 

- Breakfast with Biomarin “A Deeper Look Into Achondroplasia”

- “Just Because We Can, Should We? Examining PGT Through the Lens of Ableism, Access, and Clinical Actionability”

- Professional Issues Panel “Genetic Counseling around the Globe” Insights, Lessons, and Collaboration for a Future-Proof Profession”

- “Take it at Faith Value: A Look at the Needs of Genetic Counseling in the Hindu, Pakistani Muslim, Church of Jesus Christ of Latter-day Saints (Mormon), and Orthodox Jewish Communities” 

- “Beverly Rollnick Memorial Lecture: Ordering “The Cure” with a Side of Trepidation: The Challenges of Gene Therapy for Sickle Gene Disease”

#110 Gattaca, 22 Years Later

#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1

#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2

#301 Dwarfism with Colleen Gioffreda

#302 DNA Dialogues: Gender-Affirming Terminology and Hereditary Cancer Care

#305 Transformative Therapies for Sickle Cell Disease with “Through The Genes”

#306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19

Curious about other NSGC conferences? We have recapped the last six years of conferences including 2019, 2020, 2021, 2022, and 2023. 

- Little People of America (LPA)

- Metabolic NSGC Special Interest Group (SIG)

- DNA Dialogues, Journal of Genetic Counseling’s Podcast

- The Road to Wisdom By Dr. Francis Collins 

It was such a meaningful experience to be part of the NSGC 43rd Annual Conference. Whether you joined us in New Orleans or attended virtually, I hope you found the sessions, panels, and networking just as inspiring as we did.

Don't forget to mark your calendars! The 44th NSGC Annual Conference is happening next year in Seattle, WA from November 7-10, 2025. We are already excited to drink lots of Seattle coffee with fellow genetic counselors. 

Are you going to the American Society of Human Genetics (ASHG) Annual Conference in Denver, CO in November? Keep your eye out for our host Kira Dineen, who will mostly be in the exhibit hall. Just like this episode, she would be excited to record with you about what you learned at the conference. She also might give you DNA Today merch!

Stay tuned for the next new episode of DNA Today on Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this special episode of DNA Today, we are honored to be joined by one of the most influential figures in modern science, Dr. Francis Collins. 

Dr. Collins served as the Director of the National Institutes of Health (NIH) during one of the most critical periods in modern history, including the height of the COVID-19 pandemic. He is also renowned for leading the monumental Human Genome Project, a landmark achievement that revolutionized genetics. Dr. Collins's groundbreaking work includes the discovery of the CFTR gene, which has been crucial in advancing treatments for cystic fibrosis. He is the author of several books, including his brand new book, The Road to Wisdom. Don't forget to enter our giveaway for a copy, links further down. 

In this episode, we dive into this new book, which releases on September 17th, 2024. We discuss the insights he has gained throughout his remarkable career, the challenges of bridging science and spirituality, and his reflections on moments of triumph and failure. Dr. Collins also shares personal stories, including his discovery of faith, the difficulties faced during the Human Genome Project, and the challenges of transitioning between political administrations as NIH Director.

Key topics discussed include:

• Dr. Collins's experience discovering the CFTR gene and its impact on cystic fibrosis research
• The most critical moments of the Human Genome Project and how it reshaped our understanding of genetics
• Reflections on his tenure as NIH Director, serving under three U.S. presidents
• His response to the COVID-19 pandemic and lessons learned for future public health crises
• The role of trust between scientists and the public, and how we can combat misinformation
• His thoughts on the intersection of faith and science, and how his beliefs have shaped his career
• A special call to action from Dr. Collins’s book: a pledge to reduce animosity, be generous in spirit, and commit to sharing objective truths

Stay tuned until the end for details on our exciting giveaway! We’re offering listeners the chance to win copies of Dr. Collins’s new book, The Road to Wisdom.

Links Mentioned in the Episode:

• Enter our giveaway for a chance to win The Road to Wisdom on Instagram, LinkedIn and Twitter/X. 
• Sign Dr. Collins's Pledge hosted on Braver Angels for a kinder, more understanding world 
• Check out the organization Dr. Collins’ mentioned: Biologos 

Our episode next week will be a tad delayed; it will be a recap of the National Society of Genetic Counselors Annual Conference, which doesn’t wrap up until Saturday, September 21st. But don’t worry we are quick with edits and will have the episode to you after the conference ends. 

In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

On Episodes #288 and #289 of DNA Today, I spoke with Victoria Gray, the first person treated with CRISPR for her Sickle Cell Disease (SCD) symptoms. Since then, I’ve met two amazing patient advocates—Wunmi Bakare and Dima Hendricks—who also have Sickle Cell Disease. They've expanded my understanding of gene therapy and other emerging treatments for SCD, and perfect timing to kick off Sickle Cell Disease Awareness month this September. 

In this episode, Wunmi Bakare and Dima Hendricks share their personal journeys with SCD and delve into their experiences exploring curative therapies. They also discuss their new podcast, Through The Genes, launched on World Sickle Cell Day (June 19th, 2024). Their show offers an insightful look into the risks, benefits, and limitations of gene- and cell-based therapies for Sickle Cell Disease.

Topics Covered in This Episode:

• Wunmi and Dima’s personal experiences living with Sickle Cell Disease and their exploration of curative therapies 
• Available curative therapies for Sickle Cell Disease, including stem cell transplants and gene therapy
• The obstacles that prevented Dima from qualifying for gene therapy
• Wunmi’s stem cell transplant experience, including the procedure, recovery process, and symptom changes post-transplant
• The use of the term “cure” in the context of gene therapy for Sickle Cell Disease—how it may create misconceptions
• The importance of managing expectations around gene therapy and its long-term effects
• How mental health has played a significant role in their SCD journeys, including the emotional aspects of undergoing transformative therapy
• The crucial role of support systems—family, friends, and healthcare providers—during and after treatment
• Wunmi’s post-stem cell transplant follow-up care and the importance of continuity in care after gene therapy
• The harsh reality of medical racism faced by those living with Sickle Cell Disease, and how Wunmi and Dima navigate and advocate within the healthcare system
• Their hopes for the future of Sickle Cell Disease treatment and advice for others considering gene therapy

Our Guests:

Wunmi Bakare is a multicultural citizen and advocacy trailblazer in the sickle cell and rare disease communities. Fueled by purpose and the pursuit of social inclusion, her advocacy efforts focus on erasing the stigma of sickle cell disease through proactive and reactive engagement with the media.

She sits on the curative therapy advisory board for Beam Therapeutics, Vertex Pharmaceuticals, Pfizer, and Healthful Data and is a patient ambassador for Health Union and AllStripes. She was diagnosed with the most severe type of sickle cell disease (HbSS) at 18 months then participated in a clinical trial at the National Heart, Lung and Blood Institute (NIH-NHLBI) where she received an allogeneic stem cell transplant in 2019.

Bakare thrives as the Founder of WBPR Agency working across diverse corporate disciplines and providing strategic media counsel to top brands. In 2020, she launched #SickleCellProdigy, a platform that celebrates the lived experience of sickle cell patients globally.

Dima Hendricks, a resilient sickle cell advocate and co-founder of #ThroughThePain Inc., has dedicated over two decades to championing health awareness. Her journey includes conducting health workshops and contributing to various panel discussions. Collaborating with esteemed organizations like the American Red Cross and the American Heart and Stroke Association, Dima has extended her impact in the health community.

In addition to her advocacy, Dima has an impressive history in pageantry. She has earned titles such as Miss Black Dorchester USA, Miss Black Massachusetts USA, Mrs. Massachusetts International, and the 2024 International Mrs New England. Her experience in the pageant world spans over ten years, during which she has taken on roles as a director, coach, and judge.

Dima's inspiring story of overcoming obstacles is captured in her book "Unleashing Royalty," where readers can discover her journey to triumph.

During the episode we also mentioned #BoldLipsForSickleCell (Now Bold Plus+). 

Wunmi Bakare and Dima Hendricks are passionate patient advocates and hosts of Through The Genes, a podcast dedicated to educating and empowering those affected by Sickle Cell Disease. Both Wunmi and Dima use their personal experiences with SCD to raise awareness and spark change within the medical community, focusing particularly on the potential of gene therapies. Stay tuned for part two of our conversation, where I’ll be a guest on their show, Through The Genes, to continue this important dialogue! You can listen by searching “Through The Genes” in your podcast app or on their website ThroughTheGenes.com and follow the show on Instagram, LinkedIn, and Facebook. You can personally follow Wunmi Bakare and Dima Hendricks as well. Not only is it an audio podcast, but like us, they also produce it as a video podcast and you can watch all episodes here. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Content/Trigger Warning: This conversation includes sensitive topics of sexual abuse, violence, suicide, and homicide. It is not suitable for younger audiences. 

We delve into the complex and deeply personal story of the Galvin family, which has played a significant role in the history of schizophrenia research. Our guest, Lindsay Mary Galvin Rauch, is the youngest of twelve siblings in the Galvin family, six of whom were diagnosed with schizophrenia. Their family's genetic material has been a cornerstone of nearly every major genetic study on the disorder since the 1980s, contributing invaluable insights into the genetic underpinnings of schizophrenia.

Lindsay shares her unique perspective growing up in a large family profoundly affected by mental illness, as chronicled in Robert Kolker's award winning book Hidden Valley Road and the HBO 2024 documentary Six Schizophrenic Brothers. 

Hidden Valley Road has achieved a long list of accolades… 

• Instant #1 NEW YORK TIMES best-seller
• Official selection of OPRAH’S BOOK CLUB
• A NEW YORK TIMES, WALL STREET JOURNAL, and WASHINGTON POST Top Ten Book of the Year
• PEOPLE ’s #1 Best Book of the Year
• Named a Best Book of the Year by NPR, Time, Slate, Smithsonian, Forbes, Audiophile, Parade, Kirkus, Library Journal, Publisher’s Weekly, the Evening Standard (UK), the Sunday Times (UK), The New York Post, and Amazon
• Finalist, PEN/John Kenneth Galbraith Award for Nonfiction
• Featured in PRESIDENT BARACK OBAMA’s list of favorite books of the year

Lindsay's life's journey inspired her evolution from victim and survivor to advocate and thriver. She enjoys sharing her story of the courage to heal and fortitude in adversity. The hope for greater compassion for those affected and their families is her north star. Lindsay is a board member of The Henry Amador Center on Anosognosia and Well Power (formally the Mental Health Center of Denver).

Beyond discussing the scientific impact of her family's contributions, Lindsay opens up about her personal experiences, including the challenges of living with so many siblings diagnosed with schizophrenia, the role of trauma in mental health, and her decision to take on the responsibility of caring for her brothers later in life.

Listeners will gain insights into the following topics:

• The Galvin family's pivotal role in schizophrenia research and the discovery of a SHANK2 gene mutation linked to the disorder.
• The varied symptoms of schizophrenia among her brothers and what this diversity reveals about the condition.
• The impact of trauma on the onset of schizophrenia symptoms, and how this played out in her family.
• The challenges and responsibilities of managing care for siblings with schizophrenia, including the effects of medications, electroshock therapy, and the issue of anosognosia (lack of insight into one's illness).
• The ongoing stigma surrounding schizophrenia and the need for societal change to better support those with mental health disorders.
• The process of genetic testing for the SHANK2 familial mutation and the decisions made regarding her own children.
• Lindsay’s reflections on personal resilience, mental health, and her hopes for the future of schizophrenia research.

During the interview we mentioned a couple content/resources to check out including…

• “The Immortal Life of Henrietta Lacks” by Rebecca Skloot (Check out Episode #34 of DNA Today where descendents of Henrietta Lacks were interviewed) 
• “The Collected Schizophrenias: Essays” by Esmé Weijun Wang
• Spotlight Documentary Directed by Tom McCarthy
• National Alliance on Mental Illness (NAMI)
• Patrick J. Kennedy’s Books, “Profiles in Mental Health Courage” and “A Common Struggle”
• LEAP Institute 

Also during the episode Kira and Lindsay Mary weren’t confident about the name of the therapy that Peter was receiving. They should have been, as they got it right, electroconvulsive therapy (ECT). 

Lindsay has been launched onto the international stage due to her family's story. She has spoken for the Psych Congress, The NEI Conference, and many other prestigious programs. Speaker Inquiries are accepted at lindsaymarygalvinracuh.com. and donations to assist with her brother's care can be made at GalvinFamilyTrust.org. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We have wanted to explore the role of RNA analysis in genetic testing for a long time on DNA Today, but waited until we could get THE leader in the space, Ambry Genetics. The Vice President of Research and Development and head of their Translational Genomics lab, Dr. Rachid Karam, was kind enough to come on to have this long awaited conversation.

We'll discuss Ambry Genetics' history of innovation in RNA testing, how it has increased diagnostic yield and reduced Variants of Uncertain Significance in hereditary cancer testing, and its role in closing health disparity gaps. We'll also introduce ExomeReveal, Ambry’s new exome testing product that includes RNA analysis, extending our expertise to rare diseases.

Dr. Rachid Karam obtained his M.D. in 2003 at UFCSPA in Brazil, and his Ph.D. in Oncogenetics in 2008 at the University of Porto, Portugal. During his Ph.D. he studied the role of the tumor suppressor gene CDH1 in cancer predisposition. He did his postdoctoral fellowship at the University of California San Diego (UCSD) from 2009 to 2014 where he studied the role of the NMD mRNA surveillance pathway in cancer. He joined Ambry Genetics in 2014 and is now Ambry’s Vice President of Research & Development. His work focuses on strategies to improve the positive yield of clinical genetic testing, including the clinical implementation of new technologies such as RNA-seq and Long-Read sequencing. He also actively participates in several ClinGen committees dedicated to creating guidelines for the interpretation of genetic testing results, such as the BRCA1 and BRCA2 Variant Curation Expert Panel (VCEP) and is currently the co-chair of the ClinGen CDH1 VCEP.

Discussion Topics:

• Ambry Genetics' Leadership in RNA Analysis:
  • The journey of Ambry Genetics in becoming a pioneer in RNA testing.
  • Initial challenges and breakthroughs in RNA analysis.
• Mechanics and Benefits of RNA Testing:
  • How RNA testing works and its role in accurately classifying genetic variants.
  • The impact of RNA testing on increasing diagnostic yield and reducing VUS in hereditary cancer testing.
  • The process of reclassifying variants from VUS to likely pathogenic or benign using RNA analysis.
• Concurrent DNA/RNA Analysis:
  • The rationale behind Ambry's preference for concurrent DNA/RNA analysis.
  • Potential future shifts in the necessity of concurrent analysis as RNA evidence accumulates.
• Addressing Health Disparities:
  • Benefits of RNA testing for non-white patients in hereditary cancer testing.
• Introducing ExomeReveal:
  • Integration of RNA analysis into Ambry's new exome testing product, ExomeReveal.
  • Importance of RNA analysis for splice site variants identified during exome testing.
  • Comparison of ExomeReveal to standard exome tests in terms of diagnostic yield.
• Case Studies and Future Directions:
  • Example case demonstrating the clarity and diagnosis provided by RNA analysis.
  • Expectations and anticipated outcomes for extending RNA expertise to rare diseases.
• Implications for Genetic Counseling and Patient Management:
  • Integration of RNA testing into exome and hereditary cancer testing and its impact on genetic counseling.
  • Evolution of patient management as RNA testing integration improves.

During the episode we referenced three other episodes of DNA Today…

#95 Kieger Family on Familial Adenomatous Polyposis

#297 Exome Reanalysis with Ambry Genetics

#299 Genetic Causes of Epilepsy with Dr. Mattison, Dr. Oliveira and Ana Rita

Thanks again to Dr. Rachid Karam for helping us uncover the transformative potential of RNA analysis in genetic testing and its far-reaching implications for patient care.

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer is Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

As many of our listeners know, our host Kira Dineen is a member of the LGBQTIA+ community and thought this was an important episode to share with listeners. She is also on the DNA Dialogues team and is always excited to share episodes. 

In this episode of DNA Dialogues we delve into the importance of gender-inclusive language in genetic counseling and the specific challenges transgender and gender-diverse (TGD) individuals face in accessing hereditary cancer care. You can find these articles in a special virtual issue of the Journal of Genetic Counseling which is free and open access for the month of June. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website. 

Segment 1 “Use of gender-inclusive language in genetic counseling to optimize patient care”

Heather Motiff graduated with a B.S. in Psychology from the University of Wisconsin-Whitewater in 2006. She has extensive experience working as a crisis response advocate and co-facilitating support groups for survivors of intimate partner violence. Heather discovered her interest in genetic counseling during her first pregnancy in 2010. She has served as a Community Resource Specialist and contributed significantly to gender-affirming care initiatives during her graduate studies at UW-Madison. Heather is now an oncology genetic counselor at SSM Health Cancer Care in Madison, WI, and is dedicated to providing inclusive, quality healthcare and genetic services.

In this segment we discuss:

• Specific examples and terms used in gender-inclusive language.
• Comfort levels of genetic counselors with using gender-inclusive language.
• Findings from thematic analyses on the use of gendered language and its impact on patient care.
• Suggestions for additional training resources for healthcare professionals.

Segment 2 “Experiences of hereditary cancer care among transgender and gender diverse people: “It's gender. It's cancer risk…it's everything”

Sarah Roth is a genetic counselor and a PhD candidate in Anthropology at Johns Hopkins University. She is a BRCA1 carrier whose research focuses on the experiences of patients, communities, and providers in cancer care and genomic medicine. Sarah has been a founding editor of Tendon at JHU’s Center for Medical Humanities & Social Medicine, a contributing writer at Synapsis: A Health Humanities Journal, and a recent predoctoral fellow in Bioethics at the National Institutes of Health.

In this segment, we discuss:

• Challenges faced by TGD individuals in accessing hereditary cancer care.
• Participants' perspectives on gendered language in healthcare.
• Actionable recommendations for healthcare providers to support TGD individuals with hereditary cancer syndromes.

Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.

Be sure to check out other episodes of DNA Dialogues by searching “DNA Dialogues” in your favorite podcast app or here. Check out the Journal of Genetic Counseling here for articles featured in this episode and others. 

Any questions, episode ideas, guest pitches, or comments can be sent into [email protected]. DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and our own, Kira Dineen. Our logo was designed by Ashlyn Enokian. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Colleen Gioffreda was such a dynamic and charismatic guest in this episode of “It Happened To Me” we had to share it on DNA Today! Our host Kira Dineen is the Executive Producer on this podcast and joins as a guest host in this episode. 

Colleen is the Clinical Operations Program Administrator for the Greenberg Center for Skeletal Dysplasias in the Department of Genetic Medicine at the Johns Hopkins University School of Medicine. She handles patient inquiries, coordinates the Little People of America (LPA) Medical Advisory Board clinics at the national conferences and regionals, provides school/social resources to patients and parents, and also manages budgets and databases. 

In her volunteer life, Colleen is LPA’s Adoption Coordinator, and has helped facilitate the adoptions of over 400 children with dwarfism for the past seventeen years. She is also the Chair of the LPA Conference Management Committee and is a member of LPA’s Medical Advisory Board. 

Colleen is lucky enough to answer to the name of ‘Mom’ to her four children, who also all happen to have achondroplasia, the most common form of dwarfism. She views having achondroplasia as an opportunity, and feels fortunate to have experienced such a unique and rich adventure in life. 

Episode Highlights:

Understanding Terminology and Accommodations:

• Appropriate terms for individuals with achondroplasia and skeletal dysplasias.
• Vital accommodations for people with dwarfism in various aspects of life.

Home Modifications and Misconceptions:

• Recommended home alterations for individuals affected by dwarfism.
• Addressing misconceptions and stereotypes about dwarfism in her work.

Employment and Workplace Challenges:

• Employment roadblocks faced by little people and necessary workplace accommodations.

Career Path and Key Responsibilities:

• Colleen’s journey towards helping the skeletal dysplasia community.
• Key responsibilities in her role, including patient inquiries and coordinating medical advisory board clinics.

School and Social Resources:

• Providing school and social resources to patients and parents.
• Importance of this support in managing skeletal dysplasias.

Adoption Advocacy:

• Motivations for becoming involved in adoption advocacy.
• Experiences and insights from facilitating adoptions of children with dwarfism.
• Countries with higher frequencies of children with dwarfism waiting to be adopted.

LPA Conference Management:

• Involvement in the LPA Conference Management Committee and the significance of organizing conferences.
• Memorable and rewarding experiences supporting individuals and families.

Parental Support:

• Approaching support and resources for parents raising children with achondroplasia.

Community Advocacy and Medical Collaboration:

• Pressing issues within the dwarfism community and advocacy efforts.
• Response to FDA-approved treatment for achondroplasia (VOXZOGO® (vosoritide)) and differing viewpoints.
• Collaborating with medical professionals and researchers to advance understanding and treatment.

Personal and Professional Perspective:

• Influence of personal experience with achondroplasia on professional approach.
• Current initiatives and projects to support individuals with skeletal dysplasias.

Future Hopes and Advice:

• Hopes for the future of care and support for individuals with dwarfism.
• Advice for professionals and volunteers supporting individuals with rare genetic conditions.

Colleen Gioffreda shares invaluable insights into the world of dwarfism, from personal experiences to professional advocacy. Her work with the Greenberg Center and LPA highlights the importance of community, support, and dedicated advocacy for individuals with skeletal dysplasias. Be sure to check out more episodes of “It Happened To Me”. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Discover New Advances in the world of genetics. From genetic technology like CRISPR to rare diseases to new research. For over a decade host Kira Dineen has chatted with leaders in genetics like NBC’s Maury Povich, BBC’s Dr. Adam Rutherford, NIH’s Dr. Eric Green, NYT’s Carl Zimmer, NYU’s Dr. Arthur Caplan, NYer’s Dani Shapiro, and descendents of Henrietta Lacks. 

The show has consistently been ranked in the top 1% of podcasts worldwide, has won the Best Science and Medicine Podcast Award for three consecutive years (2020-2022), and is backed up over 70 sponsors. 

Who is featured as a guest in this teaser trailer? It's Victoria Gray! Hear the full interview on Episode 288 and 289. 

How many biological children can one sperm donor create? What are the regulations surrounding donor sperm? How can prospective parents verify the sperm donor they selected is in fact the sperm they used to conceive?

The answers are shocking.

For two weeks “The Man With 1,000 Kids” was #1 on Netflix. As of this recording in late July 2024, it has amassed 5.5 million views. It is a documentary series that captures the impact one sperm donor has had on hundreds, or more likely thousands, of families around the world. 

We're diving into this shocking story of fertility fraud with two people featured in this top streamed documentary. Eve Wiley is a leading advocate against fertility fraud after discovering that she was conceived with a different sperm donor than her parents were told. Laura is an Australian parent who discovered her two children’s sperm donor was a serial sperm donor Jonathan Jacob Meijer, whose impact is explored in this Netflix documentary series. 

Episode Topics:

• How Eve, who was donor conceived, connected with Laura, who’s kids are donor conceived
• Eve’s motivation to become an advocate against fertility fraud, including her discoveries about her sperm donor and the impact on her family.
• Laura and her partner, Kate’s reactions to discovering the notoriety of their sperm donor, Jonathan Jacob Meijer, and the mysterious message about his actions.
• The emotional and psychological journey Laura and her partner have undergone since discovering the truth about their child’s biological origins.
• The implications of Jonathan’s refusal to share a list of his biological children, and the potential benefits such a list could offer to society and affected families.
• Genetic and psychological risks associated with widespread and unregulated sperm donation.
• Long-term concerns about inbreeding and the role of genetic sexual attraction in these situations.
• Current regulations and oversight of sperm donation, including the trial in the Netherlands and its significance in controlling male body autonomy.
• Comparison of sperm donation regulation to other areas of reproductive health.
• Current legislation in the United States regarding sperm donation and Eve’s efforts to change laws in Texas and other states.
• Challenges in advocating for fertility fraud legislation and ways people can support these efforts.
• Eve and Laura’s experience of having their stories featured on Netflix and the documentary’s impact.
• Jonathan’s actions post-trial, including his media appearances and any updates or public statements from him.
• Advice for individuals considering using sperm donation to start their families, with a focus on the importance of transparency and honesty in fertility treatments.
• Supporting children as they grow older and learn about their biological origins.
• The significance of making the New York Times front page with Jonathan’s story.
• The most challenging aspects of dealing with the situation.
• Messages for other families who might find themselves in similar situations.
• How society should address the issue of fertility fraud and ways people can get involved in advocating for stronger laws.

Takeaways

• Fertility fraud is a significant issue that affects families worldwide, and there is a need for legislation to address it.
• Genetic identity is crucial, and individuals have the right to know their biological origins.
• The fertility industry lacks proper regulations, leading to cases of fraud and potential risks of inbreeding.
• Support and advocacy are essential for donor-conceived individuals and their families. The lack of transparency and regulation in the sperm donation industry has led to cases of fraud and deception, with donors having more offspring than initially disclosed.
• There is a need for standardized guidelines and monitoring in the industry to ensure transparency and informed consent for all parties involved.
• Donor-conceived individuals and their families require mental health support and specialized counseling services to navigate the complexities and emotions associated with their unique situations.
• Advocacy efforts and legal action are necessary to bring about change and protect the rights and well-being of donor-conceived individuals and their families.
• Documentaries and media coverage play a crucial role in raising awareness and sparking conversations about the challenges and ethical considerations surrounding sperm donation.

During the episode we also mentioned H.R.451 - Protecting Families from Fertility Fraud Act of 2023 in the US. At the end of the show Laura recommended Donor Conceived Australia, an organization who has been working hard on legislation about importing donors which you can learn more about here. 

You can learn more on Eve Wiley’s website here, particularly her pages about passed legislation and pending legislation. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We are delving into the genetic causes of epilepsy in this episode, specifically the role of ATP6V0C in epilepsy. To do so we are joined by Dr. Kari Mattison, Dr. Luis Miguel Oliveira, and Ana Rita. 

Kari Mattison, PhD is a research scientist at the University of Minnesota - Twin Cities. She earned her PhD in Genetics and Molecular Biology from Emory University where her dissertation work was on functional evaluation of novel variants identified in early-onset epilepsy. Kari enjoys science communication having earned an ARCS scholar award while in grad school and working as Editor-in-Chief for the Journal of Emerging Investigators, a journal aimed at helping middle and high-school aged students learn the ins and outs of scientific publishing.

Luis Miguel Oliveira, PhD, is Founder and Executive Director of the v-ATPase Alliance, a non-profit dedicated to finding a cure for rare disorders caused by v-ATPase genetic mutations. He is also a Senior Associate Director of Research Programs at The Michael J. Fox Foundation, leading several research initiatives in translational research and biomarker development for Parkinson's disease. 

Ana Rita faced the challenge of her firstborn being diagnosed with this ultra-rare genetic disease in the ATP6V0c gene, prompting her to utilize her expertise in economics, branding, communication and her entrepreneur spirit to make a difference. Despite being told there was no answer or treatment for her son, she began a mission to bring affected families together, learn from them, also questioning experts, doctors and researchers and surrounding herself with a team eager for change, committed to push boundaries and reshaping the future of all v-ATPase affected children and families. She is now a fierce Rare Disease Advocate utilizing mainly social media @anaritararemom. 

Episode Topics:

• Overview of Dr. Mattison’s research on ATP6V0C and its connection to epilepsy.
• Dr. Mattison’s journey to studying the V-ATPase complex and its role in neurological disorders.
• Initial findings linking ATP6V0C to epilepsy.
• The impact of ATP6V0C variants on the function of the V-ATPase and genotype-phenotype correlations.
• How Dr. Oliveira discovered Dr. Mattison’s paper and their subsequent collaboration.
• Daniel’s symptoms and the diagnostic odyssey leading to the identification of the pathogenic variant in ATP6V0C.
• The inception of the v-ATPase Alliance, its mission, and goals.
• Resources and support offered by the v-ATPase Alliance to patients and their families.
• The importance of a patient-centric research agenda in the v-ATPase Alliance.
• Contributions of patients and families to research efforts, particularly through the Data Collection Program.
• Collaboration between researchers and patient advocacy groups like the v-ATPase Alliance.
• Future goals and initiatives planned for the v-ATPase Alliance.
• The evolution of the field of genetics, especially concerning neurological disorders.
• Advice for new patient advocates in the rare disease community.

You can read Dr. Mattison’s paper that we refer to throughout the interview here. Be sure to check out the v-ATPase Alliance including on Facebook, Instagram, LinkedIn, and X. If you are a scientist working on v-ATPases please reach out! 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 290 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Did you know genetic counselors can work for medical insurance companies? 

Stephanie Gandomi was one of the first! She is a licensed and board-certified genetic counselor with over 20 years of experience in medical genomics including patient care, research, industry, insurance, education, and more. Currently, she serves as the Program Director of the Master of Science in Genetic Counseling at Southern California University of Health Sciences. Her previous roles in insurance include being the first genetic counselor at Blue Shield of California and the Director of Genetics at UnitedHealthcare. In this conversation, we'll explore how genetic counselors can have a huge impact working for medical insurance companies.

Also shout out to Rebecca C for recommending this topic as Stephanie the perfect guest! She saw Stephanie present on a GC Prep webinar. GC Prep does fantastic work helping students with the genetic counseling graduate program application process. GC Prep is a past sponsor and you can check out appearances by their team members in Episodes #193, #194 and others. 

Stephanie Gandomi is a board certified, licensed genetic counselor. She earned her Master of Science in genetic counseling at Brandeis University in 2006 and her MBA from Boise State University in 2019. She started her clinical career at Lucile Packard Children's Hospital at Stanford, and has been in the molecular genetics space now for over 20 years. In 2016, Stephanie became the first genetic counselor in the Blue Cross Blue Shield System of payers as the Principal Program Manager for precision medicine at Blue Shield of California. In 2016, Stephanie became the Director of Genetics at UnitedHealthcare supporting prior authorization and medical policy creation for genetics, and has served as the Director of Market Access at both Ambry Genetics and GeneDx. She is currently the Program Director for the new Master of Science in Genetic Counseling Program at Southern California University of Health Sciences. Stephanie is an AAPC Certified Professional CPT Coder and an AAPC Certified Professional Compliance Officer. She is currently pursuing her Juris Doctor degree with an emphasis in healthcare law and regulatory compliance.

Transition to the Insurance Industry

• Motivation behind moving from clinical genetic counseling to the medical insurance sector.
• The unique perspective and skills that genetic counselors bring to insurance companies.

Role of Genetic Counselors in Insurance

• Importance of genetic counselors in developing and implementing medical policies within insurance firms.
• Strategies for effectively educating insurance companies about the value and necessity of genetic testing.

Achievements and Challenges at Blue Cross

• Significant changes and innovations implemented at Blue Cross that led to cost savings and improved patient outcomes.
• Major challenges faced when advocating for genome sequencing coverage by insurance companies.

Balancing Cost and Access

• Strategies for balancing cost containment with ensuring patient access to essential genetic testing and services.
• Addressing common misconceptions insurance companies have about genetic testing and how these were tackled.

Future of Genetic Counselors in Insurance

• The evolving role of genetic counselors in the insurance industry over the next decade.
• Key skills and knowledge areas for genetic counselors interested in transitioning to the insurance sector.

Building Relationships with Payors

• Approaching the building of relationships and trust with major payors during industry tenure.
• Advice for genetic counselors on successfully advocating for patients in navigating insurance coverage for genetic tests.

Evolution of Counselor-Insurance Relationships

• Future relationship dynamics between genetic counselors and insurance companies aimed at better serving patients.
• Hopes for the future of genetic counseling and insurance coverage for genetic testing, and ways professionals can contribute to these goals.

Advice for Genetic Counselors and Students

• Guidance for genetic counselors interested in transitioning to roles within the insurance industry.
• Advice for prospective genetic counseling students applying to programs, highlighting the importance of the Boise GC program and the upcoming program at Southern California University of Health Science.

If you are a prospective genetic counseling student, the application for the SCU MSGC program opened this week here. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 290 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

In this episode, we are exploring Ambry Genetics' groundbreaking “Patient for Life” proactive exome reanalysis program. This unique initiative offers lifetime support to patients with rare and undiagnosed conditions, continuously updating their exome testing findings as new scientific discoveries are made.

Joining us are two distinguished experts from Ambry Genetics who will shed light on this innovative program and its impact on patient care. Dr. Elizabeth Chao is a board-certified geneticist and the Chief Medical Officer at Ambry Genetics and alongside her is Kelly Hagman, the Vice President of Medical Affairs and a seasoned Genetic Counselor.

• Ambry Genetics' Patient for Life program offers lifetime support to patients with rare and undiagnosed conditions, continuously updating exome testing findings to improve patient care.
• The program addresses disparities in genetic testing by reducing the impact of underrepresentation of non-European ancestries in variant classification and lowering the dependency on provider-initiated requests 
• Provider-initiated reanalysis and the potential impact on therapeutics are important considerations in the context of genetic testing and patient care.

Resources about Patient for Life:
Webpage

White paper

Interview with a GC customer who has had patients impacted by the program (blog)

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 295 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this special episode, Kristina Inman, a recent graduate of Sarah Lawrence College's genetic counseling program, interviews Dr. John Greally, a leading figure in the field of genetics and pediatrics. Kristina Inman delves into Dr. Greally’s groundbreaking work and personal journey. 

Dr. John Greally, is the director of the Center for Epigenomics, Professor of Genetics and Pediatrics, and Chief of Division of Computational Genetics at the Albert Einstein College of Medicine and the Children's Hospital at Montefiore in the Bronx.. He is also co-directing the new NORD Center of Excellence, the NY Center for Rare Diseases, with Dr. Melissa Wasserstein.

Introductions:

• Overview of Dr. Greally’s professional background and the new initiatives he's leading, including the NY Center for Rare Diseases.
• The connection through guest host Kristina Inman’s graduate thesis work and the relevance of genetic counseling in their lives.

Professional Work:

• An in-depth look at the NY Center for Rare Diseases and its mission.
• Discussing the critical issues of genomic privacy and health equity in genomics.
• Exploring Genomic Tech/GenomeDiver and their impact on the field.

Personal Journey:

• Dr. Greally shares his research background and the inspiration behind his upcoming book on epigenetics.
• His thoughts on the portrayal of epigenetics in the media and the focus on functional non-coding variants (fNCVs) in his current research.
• Explanation of terms like “regulatory landscape” and “molecular quantitative trait loci (molQTL)” at an accessible level.
• Exciting collaboration with Google Research and Deep Mind to develop a machine learning model for identifying fNCVs.

• Dr. Greally's personal experience with his diagnosis, the emotions involved, and how it influenced his professional perspective.

Patient Care:

• The impact of Dr. Greally’s personal experience on his approach to patient care and his connection to families with congenital conditions.
• The implications of receiving a variant of uncertain significance (VUS) in genetic testing and its potential impact on patients.

Reflection & Advice:

• Dr. Greally reflects on his journey, lessons on resilience, the importance of genetic testing, and the potential benefits of universal genetic screening.
• Advice for patients dealing with similar conditions and for young professionals entering the field of genetics and genetic counseling.

Future Work:

• Insights into Dr. Greally’s future plans, upcoming projects, and areas of excitement in his work.
• Resources for listeners who want to learn more about Dr. Greally’s research and initiatives.

Check out Dr. Greally’s lab and follow Dr. Greally on LinkedIn. You can also check out our guest host Kristina Inman on LinkedIn. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 290 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We explore the genetic counseling board exam, its development, delivery, and resources available to test takers by the American Board of Genetic Counseling (ABGC) directly! There is so much to cover so this is a DOUBLE EPISODE of DNA Today. 

Joining us in this episode is ABGC’s current President, Angela Trepanier, and the Executive Director, Heather Rich. They provide an insider look at the exam and discuss the process of exam development, addressing issues, and adapting the exam to be more inclusive and equitable. The conversation covers various aspects of the genetic counseling board exam, including the content, passing point determination, exam administration, and recent changes. It also delves into the cost of the exam, financial assistance, and the impact on genetic counselors. The two ABGC speakers provide insights and transparency to ease anxiety for test takers and offer valuable information for program directors and supervisors.

Takeaways

• Insight into the development and delivery of the genetic counseling board exam.
• Understanding the multi-pronged process of exam development and the involvement of diverse experts.
• Adaptation of the exam to address biases and promote inclusivity and equity.
• The importance of transparency and communication in addressing exam issues and implementing changes. The passing point for the genetic counseling board exam is determined through a rigorous process involving a passing point committee and psychometricians.
• The cost of the exam is attributed to various factors, including test vendor collaboration, committee meetings, and innovation costs.
• Financial assistance and reduced exam fees aim to increase equity and access for individuals taking the exam, with a focus on supporting those facing financial hardship.
• The exam administration process has evolved to provide immediate scoring and diagnostic score reports, enhancing the candidate experience.
• Insights from the conversation provide valuable information for test takers, program directors, and supervisors, offering transparency and easing anxiety around the exam process.

The National Society of Genetic Counselors' (NSGC) Professional Status Survey (PSS) of 2024 reported that 25% of respondents (full time genetic counselors) had their board exam fees covered by their employer. Nineteen percent had their employer cover their board exam review course. 

Most genetic counselors who sat for exams in 2023 did not receive compensation from their

employer upon board certification (83%). Thirteen percent of genetic counselors received a

raise in salary upon board certification in 2023.

Want to learn more about boards? We have a couple other episodes to listen to, some of which we mentioned in the interview. 

#126 Adam Buchanan on ABGC Boards Exam - Answering listener submitted questions about the board exam is Adam Buchanan, who was the ABGC president at the time.

#138 Genetic Counseling Boards Advice - In this episode our host Kira Dineen (who practices in prenatal) is joined by a cancer and a pediatric genetic counselor for insight from the three major specialties to provide insight 

#235 Genetic Counseling History: ABGC Formation - Seasoned genetic counselors Ann Walker and Ed Kloza reminisce and share about the formation of the American Board of Genetic Counseling (ABGC). 

During the episode we also mentioned some other resources….

GC Genius Flashcards - 150 Flashcards: Top 100 Conditions to Know + Expansion Pack (150 conditions)

ABGC Official Content Outline 

ABGC Frequently Asked Questions (FAQs)

ABGC Practice Exam

ABGC Certified Genetic Counselor (CGC®) Candidate Guide

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 295 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode we explore the emerging field of newborn screening for cancer predisposition with Dr. Lisa Diller from Dana-Farber/Boston Children’s.

What’s special about this podcast episode? Two Sarah Lawrence Genetic Counseling students took over! Great job to Jessica Fernandes and Yalda Safaei on this interview.

Dr. Lisa Diller is the Vice Chair of the Department of Pediatric Oncology and the Director of the Perini Family Survivors Center and the David B. Perini Jr. Quality of Life Clinic at the Dana-Farber Cancer Institute. Additionally, she is a co-director of the Pediatric Cancer Genetic Risk Program at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. Dr. Diller's research focuses on the late effects of treatment for childhood cancer and genetic cancer predisposition syndromes in childhood.

Newborn screening (NBS) is a vital public health service that detects genetic, metabolic, and congenital disorders early, allowing for timely intervention and better health outcomes. While traditional screening focuses on metabolic and genetic disorders, screening for cancer predisposition is still in its early stages, with ongoing research and pilot programs evaluating its feasibility and benefits. NBS is currently done using a biochemical blood test, but Dr. Diller explains the advantages of using a gene-first approach, which has been documented in a study published in the Journal of the American Medical Association which recruited roughly 30,000 Chinese newborns. The study’s findings state that using genetic testing as a first-tier approach improved detection capability as opposed to traditional methods (Chen et al. 2023).

Gene-first sequencing, also known as "phenotype-first" or "candidate-gene" sequencing, is an approach in genetic testing where specific genes that are suspected to be associated with a particular phenotype (observable traits or symptoms) are sequenced first. This method contrasts with more comprehensive sequencing techniques such as whole-exome sequencing (WES) or whole-genome sequencing (WGS), where all protein-coding regions or the entire genome, respectively, are sequenced.

Nevertheless, implementing widespread newborn screening for cancer predisposition faces several challenges. Technological limitations need addressing to ensure accurate and reliable results, healthcare infrastructure must adapt, and the costs associated with additional genetic tests and follow-up care can be high. Additionally, the psychological impact on families knowing their child has a predisposition to cancer and what it might mean for them must be considered. Ethical considerations are also crucial in this context. Informed consent, privacy, classification of variants, and the potential for discrimination based on genetic information are key concerns. Dr Diller highlights potential stigma that comes with the “label” of being positive and also how many conditions lack complete penetrance; meaning it is difficult to say when or even if these children will develop cancer. 

The importance of early detection is underscored by hereditary conditions like retinoblastoma and Li-Fraumeni syndrome (LFS). Retinoblastoma, a rare eye cancer, can be life-threatening if not detected early, but early screening and intervention can significantly improve outcomes. While screening for adult onset cancers like BRCA1/2 in newborns is not recommended, LFS is also associated with various childhood cancers, thus detecting such predispositions early allows for surveillance and preventive measures, potentially saving lives. Following a positive result, parents have the ability to make informed decisions for their children’s health management, whether that requires immediate intervention/therapies, or close monitoring.

Dr. Diller emphasizes the importance of the gene-first approach and its role in the trajectory of newborn screening. She highlights the potential of early detection and intervention to significantly reduce cancer morbidity and mortality, and she is encouraged by continued research and support for these promising initiatives. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 290 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode, we explore the rare genetic disorder Smith-Magenis Syndrome (SMS) with our guest, Scotti Taylor. Scotti shares her personal journey and insights about her oldest daughter, Drew, who was diagnosed with SMS. Join us as we learn about the challenges and triumphs faced by individuals with SMS and their families.

Scotti Taylor (she/her) is a fine artist based in Oceanside, California, and a mother to four teenagers and young adults. She divides her time between painting and advocacy work. Her art reflects her experiences as a trauma and substance abuse survivor, her roles as a wife and mother, and her responsibilities as a devoted caregiver to her adult daughter with disabilities. Taylor’s work also explores the challenges of navigating physical and social barriers in contemporary society, aiming to evoke empathy and compassion. Her primary artistic themes focus on raising awareness for perimenopausal women and illuminating the rare genetic disorder Smith-Magenis Syndrome, with which her oldest daughter was diagnosed at the age of 20.

Introduction to Drew:

• Scotti shares about her daughter Drew, her personality, and what brings her joy.

Understanding Smith-Magenis Syndrome (SMS):

• Explanation of what SMS is and how it affects individuals.
• Daily challenges faced by Drew and her family due to SMS.

Diagnostic Journey:

• When Drew started showing symptoms and the beginning of their diagnostic odyssey.
• Early involvement of healthcare providers in Drew’s diagnosis.

Physical Characteristics and Diagnosis:

• Discussion on the subtle facial features of SMS and their presence in Drew.
• The pivotal moment involving a fellow parent in a Special Needs Moms online group.
• Scotti’s initial reaction to learning about SMS through online research.

Genetic Testing:

• The process and challenges of getting genetic testing for Drew.
• The insurance approval process for the genetic test.
• Explanation of the inheritance patterns of SMS and if Scotti and Drew’s father were tested.

Symptoms and Precautions:

• Managing decreased pain sensitivity and self-injurious behaviors in people with SMS.
• Extra precautions parents and caregivers need to take to keep those with SMS safe.
• Impact of sleep disturbances on Drew and the family.

• Other hallmark features of SMS and their effects on Drew.

Family Dynamics:

• Impact of raising a child with SMS on family dynamics and relationships with Drew’s siblings.

Awareness and Advocacy:

• Importance of spreading awareness about Smith-Magenis Syndrome.
• Scotti’s art and its role in her advocacy and personal coping.

Advice and Resources:

• Advice for other parents or caregivers of individuals with SMS or similar conditions.
• Valuable resources and support networks for families affected by SMS.

Closing Thoughts:

• Scotti’s hopes for others to gain an understanding and appreciation of SMS through her experiences and advocacy.

Check out Scotti’s art here and her Instagram (@heyscottitaylor). Be sure to also check out PRISMS that Scotti recommends during the interview. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 290 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

The real power of gene editing is being able to choose exactly where to edit a genetic disorder, as easily as correcting a tiny typo in a text.

With its 25 years of expertise, Cellectis was the first company to translate gene editing tools into potentially life-saving therapies. They invented the allogeneic approach (which is the transfer of cells from one individual to another). Cellectis’ technology, TALEN®, can make very precise edits, with limited to no off-target effects and we are learning more about it in this episode.

To do so, we are joined by Dr. Julien Valton, Vice President Gene Therapy at Cellectis.

Overview of Cellectis:

• Celebrating 25 years of innovation in gene editing.
• Overview of Cellectis’ journey and contributions to the field.

Understanding TALEN Technology:

• Explanation of what TALEN stands for and how it works.
• Comparison of TALEN with other gene editing technologies like CRISPR.
• Advantages and disadvantages of using TALEN over CRISPR.
• TALEN's intellectual property status and whether other companies are working on this technology.

Chimeric Antigen Receptor (CAR) T-cells:

• Introduction to CAR T-cells and their role in gene editing with TALEN technology.

Recent Research and Innovations:

• Discussion on the new paper co-authored by Dr. Valton on using TALEN technology to edit hematopoietic stem and progenitor cells.
• Explanation of the “promoterless intronic gene editing approach” and how it differs from usual methods.
• Reasons for choosing Mucopolysaccharidosis MPS type I for the study.
• Insights into the decision to trigger gene expression only after cells have turned into the myeloid lineage.
• Remarkable findings of “corrected cells” in the brains of mice and the implications for treating metabolic and neurological disorders.

Implications and Future Directions:

• Potential therapeutic applications in the treatment of metabolic and neurological diseases.
• Discussion on the recent partnership agreement with AstraZeneca.
• Specific diseases targeted with TALEN in the near future and the goals of the collaboration with AstraZeneca.

Conclusion:

• Final thoughts from Dr. Valton on the future of gene editing and Cellectis’ role in advancing this field.

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 290 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode, we are joined by Dan Dry Dock Shockley, a retired Navy veteran and advocate living with a hereditary colon cancer syndrome. Dan’s journey from military service to becoming a passionate advocate for hereditary cancer awareness is both inspiring and educational. Tune in as we delve into his personal experiences, the importance of early detection, and his ongoing mission to educate others.

Discussion Topics

• Dan's Diagnosis and Perspective: Diagnosed at age 51 with no symptoms and no family history of colon cancer. He shares how this diagnosis shaped his perspective on health and life.
• Genetic Testing Journey: Details about who ordered Dan's genetic testing and the education and counseling he received and the information about his specific genetic variant.
• Understanding Attenuated FAP: Explanation of attenuated familial adenomatous polyposis (AFAP) and its impact on Dan’s life.
• Advocacy and Inspiration:What inspired Dan to become an advocate for hereditary colon cancer syndrome and pancreatic cancer awareness.
• Importance of Early Detection: The crucial role of colonoscopies in early cancer detection and treatment, especially in the context of hereditary cancer syndromes like AFAP.
• Meeting Dr. Henry Lynch: Dan’s experience meeting Dr. Henry Lynch, a pioneer in cancer genetics and the significance of Dr. Lynch's groundbreaking work.
• Continuing Dr. Lynch's Legacy: Dan's motivation to continue Dr. Henry T. Lynch's legacy of educating medical students and professionals about AFAP. 
• Navigating with a Positive Attitude: How Dan’s mantra, "Always Forge Ahead with a Purpose," and its significance in guiding him.
• Myth-busting Hereditary Cancer Syndromes: Common misconceptions about hereditary cancer syndromes and how Dan addresses them.
• Advice for Others: Dan’s advice for individuals diagnosed with hereditary cancer syndromes or undergoing cancer treatment.

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 290 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

To discuss ethics in genetics, we are honored to host Dr. Arthur Caplan (he/him), a renowned bioethicist and a pivotal figure in the field of medical ethics. He is currently the Drs. William F and Virginia Connolly Mitty Professor and founding head of the Division of Medical Ethics at NYU School of Medicine in New York City.

• Evolution of Bioethics in Genetics:
  • Insights into how the landscape of bioethics within genetics has evolved over the years.
• CRISPR Technology:
  • Ethical concerns surrounding the use of CRISPR technology for editing the human germ line.
  • Discussion of Dr. Caplan's influential 2015 paper on CRISPR, cited over 200 times.
  • Examination of international treaties and policies governing CRISPR use, and their effectiveness, especially in the context of the controversial case of the Chinese scientist who edited embryos.
• Ethical Concerns with CRISPR:
  • Issues of accessibility, cost, and informed consent for CRISPR-based therapies.
  • Risks associated with the misuse of CRISPR for bioterrorism or biowarfare, and mitigation strategies through regulation and oversight.
• AI in Genetics:
  • Potential impact of rapidly advancing AI technology in genetics.
  • Concerns about privacy and confidentiality related to AI applications in genetic data.
• IVF and Legal Rulings:
  • Discussion of the February 2024 Alabama Supreme Court ruling that embryos created through IVF should be considered children.
  • Implications for IVF clinics in Alabama and potential repercussions if other states follow suit.
  • Impact on individuals using IVF with preimplantation genetic screening (PGS) to prevent genetic conditions.

Dr. Caplan was the Sidney D. Caplan Professor of Bioethics at the University of Pennsylvania Perelman School of Medicine in Philadelphia, where he created the Center for Bioethics and the Department of Medical Ethics. Caplan has also taught at the University of Minnesota, where he founded the Center for Biomedical Ethics, the University of Pittsburgh, and Columbia University. He received his PhD from Columbia University.

Dr. Caplan is the author or editor of thirty-five books and over 860 papers in peer reviewed journals. His most recent books are Vaccination Ethics and Policy, with Jason Schwartz and, Getting to Good: Research Integrity in Biomedicine with Barbara Redman.

He has served on a number of national and international committees including as the chair of the National Cancer Institute Biobanking Ethics Working Group, chair of the Advisory Committee to the United Nations on Human Cloning; chair of the Advisory Committee to the Department of Health and Human Services on Blood Safety and Availability. He has also served on the Presidential Advisory Committee on Gulf War Illnesses, the special advisory committee to the International Olympic Committee on genetics and gene therapy, the Special Advisory Panel to the National Institutes of Mental Health on Human Experimentation on Vulnerable Subjects, the Wellcome Trust Advisory Panel on Research in Humanitarian Crises, and the co-director of the Joint Council of Europe/United Nations Study on Trafficking in Organs and Body Parts.

Caplan has served since 2015 as the chairperson of the Compassionate Use Advisory Committee (CompAC), an independent group of internationally recognized medical experts, bioethicists and patient representatives which advises Johnson & Johnson’s Janssen Pharmaceuticals about requests for compassionate use of some of its investigational medicines.

Dr. Caplan is a regular commentator on bioethics and health care issues for WebMD/Medscape, WGBH radio in Boston, WOR radio in New York City and KNX-CBS radio, Los Angeles. He appears frequently as a guest and commentator on various other national and international media outlets.

Dr. Caplan is the recipient of many awards and honors including the McGovern Medal of the American Medical Writers Association and the Franklin Award from the City of Philadelphia. He was a USA Today 2001 “Person of the Year and was described as one of the ten most influential people in science by Discover magazine in 2008.

He has also been honored as one of the fifty most influential people in American health care by Modern Health Care magazine, one of the ten most influential people in America in biotechnology by the National Journal, one of the ten most influential people in the ethics of biotechnology by the editors of Nature Biotechnology, and, one of the 100 most influential people in biotechnology by Scientific American magazine.

During the Covid-19 pandemic, he co-directed an advisory group on sports and recreation for the US Conference of Mayors, created a national working group on coronavirus vaccine challenge studies, developed an ethical framework for distributing drugs and vaccines for J&J, helped develop rationing policies for NYU LMC and many other health systems, was a member of the WHO advisory committee on Covid, ethics and experimental drugs/vaccines, and helped set policy for WIRB/WCG for research studies He was an advisor to Moderna and Accenture. And he continues to serve on the NCAA Sports and Covid committee.

He received the Patricia Price Browne Prize in Biomedical Ethics for 2011. In 2014 he was selected to receive the Public Service Award from the National Science Foundation/National Science Board, which honors individuals and groups that have made substantial contributions to increasing public understanding of science and engineering in the United States. In 2016 the National Organization for Rare Disorders (NORD) honored him with their Rare Impact Award and hFood and Drug Law Institute’s Distinguished Service Leadership Award. In 2019 he was honored by the Food and Drug Administration’s, Reagan/Udall Foundation with its Innovation Award.NYU Rory Meyers College of Nursing Humanitarian Award.He holds seven honorary degrees from colleges and medical schools.

DNA Today Episode #284 IVF Implications of Alabama's Frozen Embryo Ruling with Laura Hercher

DNA Today Episodes #288 and #289 CRISPR Cured Victoria Gray’s Sickle Cell

No time to waste—the ethical challenges created by CRISPR 

Standing on the Shoulders of Giant Artificial Intelligence Bots: Artificial Intelligence Can and Therefore Must Now Elevate Equity in Health Professional Education 

Dr. Athur Caplan's Faculty Listing at NYU 

Genetic Counseling Ethical Challenges and Consequences Book Co-Authored by Dr. Caplin 

Hospital At Center of Alabama Embryo Ruling Is Ending IVF Services (NY Times Article) 

Dr. Caplan was also generous enough to provide his email address ([email protected]) so you can reach out to him directly for any questions or comments.  

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 290 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Victoria is a patient advocate and international speaker from Mississippi. She is also a wife and mother of four children. Since being treated with CRISPR she has been featured in nearly every major publication including PBS, NPR, Forbes, Good Morning America, New York Times, and more. 

In the first part of our conversation she shared about her experiences prior to being cured including her sickle cell pain crisis and the medical racism she faced. If you haven’t heard this episode yet, we very much encourage you to go back to Episode #288 and listen, this is one of the most raw interviews we have had on the show over the last decade. 

In the second part of our interview in this episode, Victoria talks about inspiring others to pursue the CRISPR treatment and dives into her own CRISPR experience including the decision making process to go for it, the treatment regime itself, and her quality of life today after being cured. 

Victoria is a patient advocate and international speaker from Mississippi. She is also a wife and mother of four children. Since being treated with CRISPR she has been featured in nearly every major publication including PBS, NPR, Forbes, New York Times, and more. 

Victoria Gray, the first person in the world to be cured of a genetic condition using CRISPR, shares her experience with sickle cell disease and the challenges she faced in receiving proper care. She describes the frequent pain crises she experienced, the lack of understanding and empathy from healthcare providers, and the stigma associated with sickle cell patients. Victoria highlights the disparities in research funding and support for sickle cell compared to other genetic conditions. She also discusses the importance of mental health care and the need for better education and communication from healthcare providers. Victoria Gray shares her experience as the first person to be treated with CRISPR for sickle cell disease. She discusses the mistreatment and lack of options she faced as a patient, highlighting the ongoing issue of healthcare disparities. Victoria also talks about the impact of her story on others, including a fan who was inspired to pursue CRISPR treatment. She emphasizes the importance of mental health and the role of faith in her journey. The conversation explores the CRISPR procedure, the timeline of the treatment, and the transformation it has brought to Victoria's life.

During the interview we mentioned a couple other episodes of DNA Today that also explore sickle cell disease. 

#197 CRISPR Quality Control with Kiana Aran

#201 Sickle Cell Disease with Lifting the Veil

#214 2022 Genetics Wrapped with Eric Green

#251 Diversifying Genetic Research with 23andMe

#266 Genetics Wrapped 2023

You can also binge over 280 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

It has happened. CRISPR has been successfully used to treat sickle cell, we’d even venture to use the term cure. And today we are talking with the first person in the world who was cured from a genetic condition using CRISPR, Victoria Gray! 

Victoria is a patient advocate and international speaker from Mississippi. She is also a wife and mother of four children. Since being treated with CRISPR she has been featured in nearly every major publication including PBS, NPR, Forbes, New York Times, and more. 

Victoria Gray, the first person in the world to be cured of a genetic condition using CRISPR, shares her experience with sickle cell disease and the challenges she faced in receiving proper care. She describes the frequent pain crises she experienced, the lack of understanding and empathy from healthcare providers, and the stigma associated with sickle cell patients. Victoria highlights the disparities in research funding and support for sickle cell compared to other genetic conditions. She also discusses the importance of mental health care and the need for better education and communication from healthcare providers. Victoria Gray shares her experience as the first person to be treated with CRISPR for sickle cell disease. She discusses the mistreatment and lack of options she faced as a patient, highlighting the ongoing issue of healthcare disparities. Victoria also talks about the impact of her story on others, including a fan who was inspired to pursue CRISPR treatment. She emphasizes the importance of mental health and the role of faith in her journey. The conversation explores the CRISPR procedure, the timeline of the treatment, and the transformation it has brought to Victoria's life.

Key Takeaways

• Sickle cell disease causes frequent and severe pain crises, which can be debilitating and unpredictable.
• Healthcare providers often lack understanding and empathy towards sickle cell patients, leading to mistreatment and stigma.
• There is a significant disparity in research funding and support for sickle cell compared to other genetic conditions.
• Mental health care is crucial for individuals with sickle cell disease, but it is often overlooked.
• Better education and communication from healthcare providers are needed to improve the care and support for sickle cell patients. Healthcare disparities and mistreatment of patients with genetic conditions are ongoing issues that need to be addressed.
• The impact of Victoria Gray's story extends beyond her own experience and has inspired others to pursue CRISPR treatment.
• Mental health and faith played a significant role in Victoria's journey.
• The CRISPR procedure involved bone marrow collection, editing the cells with CRISPR, and reintroducing them into Victoria's body.
• The treatment has transformed Victoria's life, allowing her to regain independence and participate in activities she couldn't before.

During the interview we mentioned a couple other episodes of DNA Today that also explore sickle cell disease. 

#197 CRISPR Quality Control with Kiana Aran

#201 Sickle Cell Disease with Lifting the Veil

#214 2022 Genetics Wrapped with Eric Green

#251 Diversifying Genetic Research with 23andMe

#266 Genetics Wrapped 2023

Hear the second half of Victoria’s interview on the next episode (Episode #289) of DNA Today releasing on Friday May 17th. But you don’t have to wait, you can stream the entire conversation (part 1 and 2) in this YouTube video. 

You can also binge over 280 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We dive into the journey of a family who unexpectedly discovered a genetic condition and the pivotal role that research at the National Institutes of Health (NIH) played in their understanding and treatment. Joining us are Jess, a patient with a secondary genetic finding, and her genetic counselor, Julie Sapp, from the National Human Genome Research Institute.

Secondary genetic findings, often termed as incidental or unexpected results, can have profound implications for individuals and their families. Today, we explore Jess's experience with receiving such a result and the collaborative efforts between patients, genetic counselors, and researchers in navigating this journey.

Meet Our Guests:

• Jess: A patient who received a secondary genetic finding and embarked on a journey of understanding and treatment.
• Julie Sapp: A genetic counselor at the National Human Genome Research Institute, leading research efforts in the Genomic Services Research Program (GSRP), focusing on individuals with secondary findings.

Julie Chevalier Sapp, PhD, ScM, CGC is a genetic counselor at the Center for Precision Health Research at the National Human Genome Research Institute where she studies social and behavioral questions related to the practice of clinical genomics and genetic counseling.  Her research interests include how people and systems make use of genomic data, the implementation of genomic screening, and the clinical utility of genomic techniques. Julie received her genetic counseling degree from the Johns Hopkins/NHGRI genetic counseling training program in 2005 and her PhD in Translational Health Science from the George Washington University in 2024.

Interview Highlights:

1. Understanding Secondary Findings:

Julie provides insights into what constitutes a secondary finding in genetic testing and the importance of comprehending associated health risks and outcomes.

2. Patient Perspective:

Jess shares her personal experience of receiving a secondary finding and discusses her journey to the Genomic Service Research Program (GSRP) at the NIH.

3. Role of Genomic Testing in Diagnosis:

Julie elaborates on how molecular diagnosis obtained through genomic testing contributed to Jess's clinical diagnosis and subsequent healthcare management.

4. Importance of Interventions:

Julie emphasizes the significance of interventions and preventive measures in managing genetic conditions like Familial Hypercholesterolemia (FH).

5. Challenges and Barriers:

Both Jess and Julie shed light on the challenges patients face in accessing appropriate care and how genetic counselors can support them in navigating these barriers.

6. Research Insights and Future Directions:

Julie discusses the insights gained from Jess's case and the broader implications for research and clinical practice in the realm of genomic medicine.

Jess's journey exemplifies the transformative potential of collaborative research efforts in elucidating the complexities of genetic conditions and guiding personalized healthcare interventions. As we continue to advance in genomic research and testing, the experiences shared in this episode underscore the importance of patient-centered care and the invaluable contributions of genetic counselors and researchers alike.

Be sure to check out the National Human Genome Research Institute including their Genomic Services Research Program (GSRP). 

Stay tuned for the next new episode of DNA Today next Friday since new episodes are released every Friday! In the meantime, you can binge over 285 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We have an international perspective in this episode who is a leader in genetics in Qatar. We previously talked to the first certified genetic counselor in Qatar, Shenela Lakhani, in Episode #109. If you haven’t yet we encourage you to check that interview out.

In this episode, We learn about the Qatar Genome Program (QGP), which is part of the Qatar Foundation, from the Director himself, Dr. Said Ismail. Dr. Ismail was pivotal to the establishment of the Qatar Genome Program -- a groundbreaking genome sequencing initiative that started in 2015 and is the largest project of its kind in the Middle East. QGP was the first whole-genome sequencing operation in the region to study Qatari and Arab genomes.

Dr. Said Ismail expertise and research lie in the fields of molecular biology and genetics, with a focus on cancer genetics, precision medicine, and the screening and characterization of disease-related mutations in the Arab population. Dr. Ismail has work experience across various fields, including research, education, and consultancy. He served as a consultant to several regional and international pharma and biotech companies. He headed the Jordan University Hospital molecular diagnostics reference laboratory, and was a board member of the local advisory board of the International Consortium for the American Society for Clinical Pathology International (ASCPI). He is the first president and co-founder of the International Society on Aptamers and is also an editorial board member of multiple international journals.

Dr. Ismail has a special interest in promoting research among young students. He launched one of the largest efforts to enhance the Arabic medical content on the internet, The “Bel-Arabi” or “In-Arabic” initiative: "بالعربي". He is also a board member of the Phi Science Institute aiming to encourage young students to pursue careers in research.

Dr. Ismail won the Said Foundation prize for young Arab researchers in the UK, and the Shoman award for Arab researchers in biomedical sciences in 2013. Dr Ismail holds a Ph.D. from the University of Oxford.

Key Insights from the Interview:

1. Inspiration behind QGP: Dr. Ismail shares his motivations for spearheading such a groundbreaking initiative, emphasizing the importance of advancing genomic research to enhance healthcare outcomes and address the unique genetic characteristics of the Arab population.
2. Significance of Diversity: We explore the importance of accessing diverse genomic information, particularly concerning the Arab population, in advancing precision medicine. Dr. Ismail highlights the role of QGP in uncovering genetic variations specific to the Qatari population and their implications for disease susceptibility and treatment outcomes.
3. Collaborative Efforts: Dr. Ismail discusses QGP's collaborations with other institutions and researchers to advance genomic research globally. Through partnerships and knowledge exchange, QGP aims to contribute to the broader understanding of genomics and precision medicine.
4. Challenges and Future Prospects: We delve into the challenges encountered in implementing precision medicine approaches and the future prospects of genomic research in Qatar and the wider region. Dr. Ismail provides insights into the evolving landscape of precision healthcare and the potential challenges that lie ahead.

Relevant Links:

Qatar Genome Program: https://www.qatargenome.org.qa/ 

News Story on QGP: https://www.eurekalert.org/news-releases/907772

Perception of consanguineous marriage among the qatari population: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436573/ 

Qatar completes genome sequencing of 30,000 citizens: https://www.gulf-times.com/article/668469/qatar/qatar-completes-genome-sequencing-of-30000-citizens 

Mappin The Arab Genome: https://www.nature.com/articles/s41588-022-01239-0

GWAS paper: https://www.nature.com/articles/s41467-021-21381-3

PGx paper: https://www.nature.com/articles/s41525-022-00281-5

Familial Cancer paper: https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(21)00752-X/abstract

ACMG paper: https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24278

Population Structure paper: https://www.nature.com/articles/s41467-021-25287-y

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 280 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In our most streamed episode of 2023, we delved into the fascinating world of Artificial Intelligence (AI) and its impact on genetics with Daniel Uribe, the founder and CEO of GenoBank.io. Now, Daniel returns to the show to provide us with insights into the latest advancements in AI technology and its applications in genetics.

In Episode #231, Daniel Uribe and our host Kira Dineen discussed the transformative potential of AI in genetics, focusing on its role in variant curation and diagnostic processes. Since then, AI has continued to evolve rapidly, revolutionizing the field of genetics and offering new possibilities for understanding health and DNA.

Danie Uribe, MBA, founder and CEO of GenoBank.io, is at the forefront of integrating AI with genomics to empower individuals and families in understanding their health and DNA. With a deep background in data science, artificial intelligence, and bioinformatics, Danie’s leadership has steered GenoBank.io to develop groundbreaking protocols that utilize BioNFTs for secure genomic data governance. His work champions the cause of data privacy and sovereignty in personal genomics, leveraging AI to demystify complex genetic information for personal health empowerment. An alumnus of IPADE Business School, Danie holds additional certifications in Ethereum Solidity Dapp, eQTL Functional Genetics, and RNA-seq Workshop. A pioneer in the DeSci movement, he is dedicated to making GenoBank.io a beacon for individuals seeking to navigate their health journey with confidence, supported by accessible and secure genomic insights.

Interview Highlights:

1. Advancements in AI Technology:

Daniel provides an overview of the remarkable progress AI has made since our last conversation on Episode #231 in early 2023, highlighting its growing influence and expanding applications in genetics. From variant curation to diagnostic workflows, AI is transforming the way we understand and interpret genomic data.

2. Current Uses of AI in Genetics:

Daniel explores the diverse ways in which AI is already being utilized in genetics, from prioritizing workflow for variant curation to filtering through large volumes of genomic data. He shares real-world examples of AI-driven solutions that have enhanced efficiency and accuracy in genomic analysis.

3. Impact on Genetic Jobs:
   We discuss the potential implications of AI on genetic jobs and whether AI will replace certain roles in the field. Daniel offers insights into how AI can augment the capabilities of genetic counselors and other experts, emphasizing the importance of embracing AI as a valuable tool rather than a replacement.

4. Enhancing Variant Curation with AI:

Daniel explains the role of AI in prioritizing variants for further investigation in the curation workflow and how it accelerates the diagnostic odyssey, particularly for individuals with rare diseases. He addresses concerns about costs and disparities in variant curation and discusses the potential of AI to close these gaps.

5. Addressing Challenges and Security Concerns:

We delve into the challenges genetic counselors face in adopting AI tools and discuss strategies for overcoming these obstacles. Daniel also highlights the importance of data security and the need for robust measures to protect individuals' data while utilizing AI tools in genetic analysis.

6. Regulatory Landscape and Future Outlook:

Daniel provides updates on regulations and policies affecting the use of AI in genetics, particularly in the US. He shares insights into the integration of AI as a co-pilot in the profession of genetic counseling and discusses the future trajectory of AI-driven advancements in genetics.

As we navigate the dynamic landscape of AI and genetics, Daniel's expertise offers invaluable insights into the transformative potential of this technology. From improving diagnostic accuracy to addressing disparities in variant curation, AI holds immense promise for revolutionizing the field of genetics and enhancing patient care. Be sure to check out GenoBank.io. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 285 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Trigger warning: In this episode sensitive topics are discussed including, but not limited to, miscarriage, sexual abuse, manslaughter, and child abuse. 

On February 16th, 2024 the Alabama Supreme Court brought fertility care in that state to a screeching halt—and started a national conversation—by declaring that frozen embryos were people in the eyes of the law.

This is the first line of Laura Hercher’s Scientific American article, “How Arguments that Embryos Are People Pose a Threat to IVF''.

And we are lucky enough to have Laura joining us to discuss this!

For those that somehow don’t know Laura Hercher, you haven’t listened to enough episodes of DNA Today she has become our correspondent when major legislation happens that affects reproductive medicine, check those episodes out below. 

#157 NSGC 2021 Recap (Texas Abortion Ban)

#191 Overturning Roe v. Wade with Laura Hercher

Laura Hercher (she/her) is a genetic counselor and the Director of Student Research at Sarah Lawrence College’s Joan H. Marks Graduate Program in Human Genetics, where her research focuses on ethical, legal and social issues in genomic medicine. Her work as a commentator and journalist has been published in a wide variety of media outlets, including Scientific American, the MIT Technology Review, the Nation Magazine and the New York Times. At present, she is working on a book examining the societal implications of reproductive genomic medicine in the United States, tentatively entitled “The Ghettoization of Genetic Disease.”

On This Episode We Discuss: 

• Overview of the Alabama Supreme Court case and its ruling on the legal status of frozen embryos
• Definition of personhood and its implications for IVF and Republican politicians
• Implications of the ruling for couples seeking fertility treatment involving frozen embryos
• Impact of the ruling on the use of IVF for preventing hereditary conditions
• Considerations regarding legal liabilities and responsibilities for abandoned embryos
• Historical exemptions of IVF from abortion restrictions and its future under personhood laws
• Tensions between embryo recognition as individuals and practical IVF procedures
• Potential changes in availability and affordability of IVF due to legal implications
• Precedents from other countries and legal systems regarding IVF and embryo personhood 
• Role of the U.S. Supreme Court in adjudicating similar reproductive rights cases
• Teaser for Laura Hercher’s upcoming book on the societal implications of reproductive genomic medicine

If you listened until the end of the episode, you heard Laura Hercher’s breaking news. No spoilers, but now you have to listen to our episode about how accurate the genetics in the 1997 movie Gattaca is today, that’s Episode #110. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 280 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We delve into the intricate intersection of genetics and cardiac health, exploring the profound impact of genetic insights on patient care and treatment decisions. Joining us are two distinguished guests from Blueprint Genetics, Julie Hathaway and Susan Christian, both seasoned genetic counselors specializing in cardiovascular health. Their expertise promises to illuminate the complexities of genetic testing in cardiac conditions, offering valuable insights into familial risk assessment, intervention strategies, and emerging trends in personalized medicine.

Susan Christian is a certified genetic counsellor with Genetics & Genomics with Alberta Precision Labs and is cross appointed to the Medical Genetics Clinics with Alberta Health Services.  She completed a MSc in Genetic Counselling from the University of British Columbia in 1999 and a PhD in Medical Genetics from the University of Alberta in 2019.  Her research focus is on genetic counselling and inherited heart disease.

Julie Hathaway is an American and Canadian Board certified genetic counselor. She was introduced to cardiac genetics early on in her career and this remains her main area of interest in the field. As a Clinical Liaison at Blueprint Genetics, Julie provides both internal and external clinical support and education. In addition, she contributes to research and creating scientific content.

Exploring Genetic Cardiac Conditions:

- Deciphering the two main types of cardiac conditions: structural differences and rhythm abnormalities, providing clarity on their distinctions and clinical implications.

Identifying Familial Risk:

- Key clues in family histories that may indicate inherited cardiac conditions, emphasizing the importance of early detection and intervention.

Challenges in Testing Deceased Patients:

- The challenges laboratories face in testing deceased patients, highlighting the complexities of obtaining samples and interpreting limited phenotypic data.

Family Testing and Intervention:

- The significance of testing family members after identifying a familial variant, discussing intervention strategies and clinical trial eligibility.

Patient Impact of Genetic Test Results:

- How genetic test results impact patient management, including decisions regarding clinical trial eligibility and implantable cardioverter-defibrillator (ICD) implantation.

Genetic Testing Panels and Exome Sequencing:

- The selection of genetic testing panels, discussing the considerations for panel size and the circumstances warranting exome sequencing.

Addressing Emotional and Psychological Aspects:

- The vital role of genetic counselors in supporting patients and families through the emotional and psychological aspects of genetic testing for cardiac conditions.

Ethical Considerations and Future Trends:

- The ethical considerations of genetic testing in pediatric cases and explores the future of genetic testing and personalized medicine in cardiology.

Be sure to check out Blueprint Genetics’ cardiac genetic testing options including over 20 panels. 

 Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 280 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Ornithine transcarbamylase deficiency (OTC-D) is the most common urea cycle disorder (UCD) and is inherited in an X-linked manner. Females with OTC-D are affected to varying degrees. Some female patients will develop chronic and nonspecific symptoms, such as headaches, and all women with OTC-D are at risk of experiencing hyperammonemic crises. Additionally, recent studies suggest these women can experience neurocognitive changes even though they may appear to be “asymptomatic” or have mild symptoms. As our understanding of the disease has evolved, so too have the ways in which we refer to these women and approach their care.

In this episode, we’re delving into the evolution of caring for heterozygous females with OTC-D, including the unique challenges to diagnosis and management of these patients with variable and nonspecific symptoms.

Joining us are two esteemed guests well-versed in the unique needs of females with OTC-D.

Annette Feigenbaum, MBChB, FRCPC, DABMG (Rady Children’s Hospital and University of California San Diego), is a metabolic geneticist with over 30 years of experience in the field. She recently retired from her clinic role at Rady Children’s Hospital, where she served as an associate physician for the past 12 years. She and her team recently published a case report on the prenatal and postpartum management of a female with OTC-D. She has also published an overview of the challenges of managing female heterozygotes with OTC-D.

Joshua Baker, DO (Ann & Robert H. Lurie Children’s Hospital of Chicago), is a metabolic geneticist and the director of the Inborn Errors of Metabolism Program in the Division of Genetics, Genomics, and Metabolism. He and his team recently published a case report on a family with variable manifestations of OTC-D.

On This Episode, We Discuss:

• How our understanding and approaches to managing heterozygous females with OTC-D have changed over time
• Management challenges unique to females with OTC-D and best practices for encouraging continued engagement in their care
• Opportunities to support the care of females with OTC-D

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 270 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching “DNA Today.” Episodes since 2021 are also recorded with video, which you can watch on our YouTube channel; this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach intern is Sanya Tinaikar. Our social media intern is Kajal Patel, and our logo graphic designer is Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube, and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

A physician-scientist father shares his heartbreaking story of the death of his daughter who was diagnosed with Tay-Sachs disease and how it motivated him to become the CEO of JScreen to prevent this experience in other families. 

This episode was originally recorded for another podcast Kira Dineen produces, It Happened To Me, and which is hosted by Cathy Gildenhorn and Beth Glassman. 

Matt Goldstein is a physician-scientist and entrepreneur. He has founded companies, built R&D teams, and led strategy and execution of both pre-clinical research and clinical development. Prior to joining JScreen and Emory University, Matt was a Partner at Related Sciences, a venture creation firm. As an entrepreneur at Third Rock Ventures he spent a decade building and operating Third Rock portfolio companies. He was responsible for building and leading the Immunology program at Tango Therapeutics, the centerpiece of Tango’s strategic multi-billion dollar partnership with Gilead Sciences, Inc. He also served as the development head for Tango’s lead program which entered the clinic in 1H 2022. Matt was a co-founder of Neon Therapeutics leading Translational Medicine and Early Development through completion of their first clinical study and initial public offering. He is a graduate of Swarthmore College and the MD/PhD program at Stanford University, where he pioneered novel cancer immunotherapies in the lab of Ron Levy, MD. He completed his clinical training in Internal Medicine at Harvard Medical School, Brigham & Women’s Hospital. He lives in Boston with his wife, Myra, their second daughter Kaia and son Ezra. His oldest daughter Havi died on January 20th, 2021 of Tay-Sachs disease.

A quick update that during the episode Matthew mentioned there are 4,000 genetic counselors in the USA, this number has now surpassed 5,000.  

During the episode, Matthew recommends the book Bearing the Unbearable: Love, Loss, and the Heartbreaking Path of Grief by Dr. Joanne Cacciatore. 

Check out his wife, Myra Sack’s organization, Emotion, which is for grieving individuals to find community and cope with loss. In the next episode of It Happened To Me Myra Sack will come on the show to share about Emotion and her upcoming book, Fifty-Seven Fridays, which consists of memoirs from Matt and Myra, Havi’s diagnosis, and how they celebrated her life. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 280 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

National Down Syndrome Awareness day is just around the corner on March 21st, since it’s the 21st day of the third month (a reference to the three copies of chromosome 21). 

To learn more about the condition and community we are joined by patient advocate, parent and Nurse, Jenness Stock. Jenness Stock (she/her) is a Nationally Certified School Nurse with a Masters Degree in Nursing Education. She is also a mother of five, and her youngest child had a prenatal diagnosis of Down syndrome. She is an active parent in the Down syndrome advocacy community, notably as a member of the Down Syndrome Diagnosis Network Medical Outreach Team. This team provides medical professionals with the tools and resources needed to discuss Down syndrome in a way that is supportive and educational at every stage. They share the most up-to-date evidence available to guide practitioners in delivering and discussing a diagnosis or screen result. 

Exploring Down Syndrome Advocacy:

• Jenness shares her journey into the Down syndrome advocacy community and highlights the rewarding moments she has experienced as a parent and advocate.

Challenges and Support:

• We delve into the challenges faced by individuals with Down syndrome and their families, discussing ways in which communities can offer support and foster inclusivity.

Navigating Healthcare Conversations:

• Jenness reflects on her own experiences with healthcare providers during the prenatal diagnosis of Down syndrome, offering insights into effective communication and support.

Educating Medical Professionals:

• As a trained nurse, Jenness discusses the intersection of her nursing background with her advocacy work, emphasizing the importance of education and awareness among medical professionals.

Down Syndrome Diagnosis Network:

• Jenness provides valuable insights into the work of the Down Syndrome Diagnosis Network Medical Outreach Team, highlighting key resources and tools provided to medical professionals.

Empowering Parents:

• Jenness offers advice and guidance to parents navigating a prenatal diagnosis of Down syndrome, drawing from her own experiences and journey.

Creating Inclusive Environments:

• We explore the role of schools in creating inclusive environments for students with Down syndrome and other disabilities, discussing strategies for fostering acceptance and support.

Celebrating Down Syndrome Awareness Day:

• As we approach National Down Syndrome Awareness Day, Jenness shares a heartfelt message about the importance of celebrating and supporting individuals with Down syndrome.

As we conclude our conversation with Jenness Stock, we are reminded of the power of advocacy, compassion, and community in embracing and celebrating individuals with Down syndrome. Join us in honoring their unique abilities, contributions, and the joy they bring to our lives.

During the interview Jenness provided resources, check them out below…

Down Syndrome Diagnosis Network's (DSDN) Resource for Medical Professionals 

Form to request materials from DSDN for providers and patients

GiGi’s PlayHouse

We recommend you also check out Glee Actress Lauren Potter on Episode #176. She shares her experience of having Down Syndrome including her advocacy and acting career. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 280 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We are excited to welcome on the show Lori Bassett, a board-certified genetic counselor and the Director of Communications at the Greenwood Genetic Center (GGC). As GGC commemorates its 50th anniversary this year, Lori joins us to shed light on the center's remarkable journey, achievements, and contributions to the field of genetics.

Lori Bassett brings a wealth of knowledge and experience to our conversation as she shares insights into the Greenwood Genetic Center's mission, structure, and impact. Since 2010, Lori has played a pivotal role in GGC's communication efforts, ensuring that the center's groundbreaking work reaches a wide audience.

Exploring the Greenwood Genetic Center:

- Lori provides an overview of the Greenwood Genetic Center, highlighting its patient-centric approach to clinical genetic services, diagnostic testing, research initiatives, and education programs. Situated in Greenwood, SC, GGC serves as a beacon of hope and innovation in the field of genetics.

Founding and Motivation:

- Delving into the center's origins, Lori shares the motivation behind the establishment of GGC and sheds light on why it found its home in Greenwood, SC. Founded in 1974 by Dr. Roger Stevenson and Dr. Hal Taylor, GGC's journey began with a vision to provide comprehensive genetic services to individuals and families.

Unique Collaborative Divisions:

- Lori discusses GGC's unique structure, comprising four collaborative divisions: clinics, diagnostic labs, research, and education. Through partnerships, funding initiatives, and collaborations with institutions like MUSC, GGC continues to push the boundaries of genetic research and clinical care.

Milestones and Achievements:

- Reflecting on the center's 50-year legacy, Lori highlights key achievements and contributions, including groundbreaking discoveries in genetic mechanisms, advancements in diagnostic testing, and pioneering initiatives such as the Birth Defects Prevention Program and the Carroll A. Campbell Alzheimer's Initiative.

Current Initiatives and Future Outlook:

- Lori shares insights into GGC's current initiatives, including the Precision Medicine Initiative and the Carroll A. Campbell Alzheimer's Initiative - MitoSense, offering a glimpse into the center's ongoing commitment to innovation and excellence.

Engaging with GGC:

- For those eager to learn more about GGC and its groundbreaking work, Lori invites listeners to explore past podcast episodes and visit GGC's booth (#1201) at the upcoming ACMG conference. Don't miss this opportunity to connect with the GGC team and learn about the latest advancements in genetics.

In the episode we mentioned EpiSign, you can check out the newest version 5 that includes over 90 signatures. In Episode #145 of DNA Today we talked about this genome-wide methylation analysis. 

During the episode we also chatted about mitochondrial disorders, check out Episodes #170 

and #196 to learn more. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 275 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Welcome to the first episode of DNA Dialogues, the official podcast of the Journal of Genetic Counseling. DNA Today’s Host/Producer Kira Dineen is on the production team of DNA Dialogues and is excited to share the first episode of the podcast!

Rare diseases can impact so many people - from patients themselves, to families, to broader communities. To celebrate rare disease day, we are going to dive into two recent articles from the Journal of Genetic Counseling that showcase the rare disease experience. The following interviews provide insight into the wider impact of rare disease, with a special focus on families.

Segment 1: “Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings”

Dr. Catherine Larson joins us in the first segment to talk about her recent article titled, “Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings”. 

Dr. Catherine Larson is a Child and Adolescent Psychiatrist and a sibling to Elizabeth, who has a Chromosome 18 deletion. After earning her undergraduate degree, she worked as a research assistant at the Chromosome 18 Research Center, where she began her research on Sibling relationships. Dr. Larson earned her Medical Degree from the University of Texas School of Medicine at San Antonio. She then went on to complete a General Psychiatry Residency Program, followed by a Fellowship in Child and Adolescent Psychiatry at The University of Texas at Austin, Dell Medical School. As a practicing psychiatrist, she opened her private practice in Austin, Texas, and she also returned to join the research team at the Chromosome 18 Research Center.

Dr. Catherine Larson is double Board Certified by the American Board of Psychiatry and Neurology in General Psychiatry and Child and Adolescent Psychiatry. Dr. Larson earned her Medical Degree from the University of Texas School of Medicine at San Antonio. She then went on to complete a General Psychiatry Residency Program, followed by a Fellowship in Child and Adolescent Psychiatry at The University of Texas at Austin, Dell Medical School. In addition to her private practice, she is currently an Adjunct Assistant Professor at The University of Texas Health School of Medicine at San Antonio. 

Segment 2 “Families' experiences accessing care after genomic sequencing in the pediatric cancer context: ‘It's just been a big juggle’”

Authors Sarah Scollon and Blake Vuocolo talk about their recent Journal of Genetic Counseling paper in the pediatric cancer space. 

Sarah Scollon is an Assistant Professor in the Department of Pediatrics at Baylor College of Medicine and certified genetic counselor for the Texas Children’s Hospital Cancer Genetics and Genomics Program. She has served in dual clinical and research roles across the course of her career. Her research interests engage the overarching themes of (1) adaptation of genetic counseling practice to implement evolving technologies (2) optimization of patient-provider communication and education and (3) equity and inclusion for diverse populations in genetic medicine and research. Ms. Scollon has had a longstanding dedication to the care of children and families affected by cancer. She is an advocate for including genetic counseling into pediatric cancer care. She works to educate others on the role genetics and genomics can play in the care of patients with pediatric cancer and their families both from a clinical and psychosocial standpoint.

Blake Vuocolo is a certified research genetic counselor in the Department of Molecular and Human Genetics at Baylor College of Medicine. She graduated from the Baylor College of Medicine Genetic Counseling Program in 2022, and her thesis work focused on access to follow-up hereditary cancer care in underserved pediatric populations through the KidsCanSeq study. Currently, her work focuses on exome and genome sequencing of medically underserved populations with undiagnosed diseases throughout Texas. Ms. Vuocolo is passionate about finding sustainable ways to improve genomic health equity worldwide. Her interests include exploring access barriers to receiving genomic care in different healthcare contexts and improving genetics education for non-genetics healthcare providers in under-resourced regions of the country and beyond.

Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”. 

For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others. 

Any questions, episode ideas, guest pitches, or comments can be sent into [email protected]. 

DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today’s Kira Dineen. Our logo was designed by Ashlyn Enokian. 

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Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 275 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

To continue our rare disease month celebrations (leading up to rare disease day on Feb 29th, the rarest day in the year), in this episode we chat with Sarita Edwards who’s son Elijah has Trisomy 18. 

Sarita Edwards (she/her) is the CEO & President at the E.WE Foundation, a global healthcare advocacy organization for families living with Trisomy 18 (Edwards Syndrome) and other rare diseases. Sarita's son Elijah was diagnosed in utero with Full Trisomy 18 which began her efforts of advocacy and public policy. Sarita is a 2021 world's top patient expert and social health ambassador. She is an award winning advocate, global speaker, and host of the Being Rare Podcast. Sarita is a legislative advocate providing insight on policy initiatives within her home state and across the country. Sarita has a Bachelor of Science in Health Science, a Masters in Healthcare Administration, and is a certified Mental Health Instructor. Sarita lives in North Alabama with her husband Kareem and their five children.

Exploring Trisomy 18:

- Sarita shares her personal journey and experiences upon learning that her son, Elijah, may have Trisomy 18, offering insights into her pregnancy and interactions with healthcare providers.

Challenging Misconceptions:

- Dispelling common misconceptions about Trisomy 18, Sarita sheds light on the realities and complexities of living with this condition.

Supporting Families:

- We delve into the challenges families face when caring for a child with Trisomy 18, exploring the vital role of organizations like the E.WE Foundation in providing support and resources.

Empowering Advocacy:

- Sarita discusses her introduction to the Trisomy 18 community, the inspiration behind founding the E.WE Foundation, and its evolution in supporting families worldwide.

Mission of the E.WE Foundation:

- Gain insights into the mission and goals of the E.WE Foundation, its commitment to supporting families living with Trisomy 18 and rare diseases, and the importance of raising awareness.

Advice and Guidance:

- Sarita offers heartfelt advice to parents navigating a diagnosis of Trisomy 18, drawing from her own experiences and journey with her son, Elijah.

Collaboration and Impact:

- Learn how the E.WE Foundation collaborates with healthcare professionals and organizations to enhance care and resources for individuals with Trisomy 18.

Future Hopes and Aspirations:

- Sarita shares her hopes for the future, envisioning advancements in awareness, research, and care for individuals with Trisomy 18.

We recommend listening to Episode #228 of DNA Today, highlighting the importance of continued education and awareness around Trisomy 18 and other rare diseases.Be sure to check out E.WE Foundation’s website for more info and resources. Keep your eye out for Kira’s guest appearance on Sarita Edwards’ podcast, Being Rare. 

The next episode of DNA Today will be an exciting announcement about a collaboration for a brand new podcast in the genetics research space, stay tuned for March 1st… 

New episodes are released every Friday. In the meantime, you can binge over 275 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode, we're diving deep into the realm of targeted DNA methylation sequencing, a cutting-edge technology with vast implications for clinical diagnostics and research. Joining us are Chad Pollard, CEO and Co-Founder of Wasatch BioLabs, and Dr. Jonathon Hill, an expert in genomic and bioinformatic methods. Together, they shed light on the importance of DNA methylation, the intricacies of targeted sequencing, and the future of epigenetic analysis.

Chad Pollard, BS

CEO | Co-Founder

Chad, a PhD candidate of Cell Biology and Physiology at BYU, graduated with his bachelor's degree in Genetics, Genomics, and Biotechnology and is currently furthering his pioneering work on pre-symptomatic diagnostics for neurodegenerative disease. He focuses on implementing groundbreaking technology through Wasatch BioLabs to impact clinical care.

Dr. Jonathon Hill, PhD

VP of Science and Technology | Board Member | Co-Founder

Jonathon, an Associate Professor of Cell Biology and Physiology at BYU, develops innovative genomic and bioinformatic methods for gene expression analysis and variant detection. He studies the molecular genetics of congenital heart defects in his lab. He is a Fulbright Scholar and a BYU Early-Career Teaching Award recipient, having received his MS in Molecular Biology from the University of Colorado Health Science Center and a PhD in Genetics and Developmental Biology from Columbia University.

Understanding DNA Methylation Sequencing:

- An overview of DNA methylation and its significance in regulating gene expression and cellular function.

- Insights into how targeted DNA methylation sequencing works and the conditions that prompt its use in clinical and research settings.

- Chad discusses Wasatch BioLabs' motivation for incorporating targeted methylation assays into its sequencing services and how this capability addresses unmet needs in various settings.

Advantages of Oxford Nanopore Technologies' PromethION Platform:

- An exploration of the advantages of using the PromethION platform for targeted methylation analysis, including accuracy, coverage, sensitivity, scalability, and cost-effectiveness.

- Dr. Hill delves into the development process behind targeted sequencing technology for methylation analysis and considerations for panel design to ensure relevance and specificity.

- Measures taken by Wasatch BioLabs to ensure the accuracy and reliability of methylation data obtained through its targeted sequencing service, including quality control protocols.

- Challenges encountered in implementing targeted methylation assays on the PromethION platform and how Wasatch BioLabs has addressed these challenges.

Clinical Applications and Future Implications:

- Potential clinical applications of targeted methylation analysis for early diagnostics and personalized medicine, along with insights into disease mechanisms and therapeutic strategies.

- Walkthrough of the sample submission process and receiving results for the Targeted DNA Methylation Sequencing service, along with customization options available to researchers.

- Ongoing collaborations and partnerships involving Wasatch BioLabs to explore the utility of targeted methylation assays for various diseases and conditions.

- Chad and Dr. Hill share their excitement about the future of targeted methylation analysis and its potential contributions to advancements in research and healthcare.

Learn more on Wasatch BioLab’s website.

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 275 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

In this episode we're delving into the intricate landscape of ALS (Amyotrophic Lateral Sclerosis), commonly known as Lou Gehrig's disease. Returning to the show is Dr. Patrick Short, CEO and Co-Founder of the healthtech platform Sano Genetics. With his expertise in researching large-scale genome sequencing and rare disorders, Dr. Short provides invaluable insights into the genetics of ALS.

Dr. Patrick Short is a Cambridge-trained PhD geneticist with experience researching large-scale genome sequencing and rare disorders. He is CEO and co-founder of healthtech platform Sano Genetics, which is accelerating the world’s transition to precision medicine. Sano simplifies studies, working with pharmaceutical companies and biotechs to find, screen, and engage participants faster and more cost effectively; with researchers to increase efficiency and impact; and with patient advocacy groups to drive research with and for their communities.

Understanding the Role of Genetics in ALS

- Dr. Short sheds light on the role genetics plays in ALS and discusses potential non-genetic factors that contribute to the disease.

Genetic Factors and Risk for ALS

- Exploration of genes associated with a higher risk for ALS and whether they contribute to diagnosis or merely increase susceptibility.

Evolution of Understanding in ALS Genetics

- Dr. Short discusses how our understanding of ALS genetics has evolved in recent years and offers insights into future advancements.

Comparing ALS with Other Neurodegenerative Disorders

- Insights into how the genetic landscape of ALS differs from conditions like Alzheimer's and Parkinson's disease.

The "Light The Way" Program by Sano Genetics

- An introduction to Sano Genetics' free program, "Light The Way," designed for families affected by ALS.

- Eligibility criteria and the enrollment process for families interested in participating in the "Light The Way" program.

- Key objectives and expected outcomes of the "Light The Way" program, focusing on uncovering genetic risks for ALS.

Challenges in Large-Scale Genetic Studies

- Dr. Short discusses the complexities and challenges involved in conducting large-scale genetic studies focused on ALS.

Contributions to ALS Research and Therapy Development

- Envisioning how data collected can contribute to our understanding of ALS and the development of potential therapies.

Importance of International Collaboration

- Insights into the crucial role of international collaboration and data sharing in advancing genetic research and therapy development for ALS.

As we navigate the intricate genetics of ALS, Dr. Patrick Short provides a wealth of knowledge and perspective, offering hope for advancements in diagnosis, treatment, and ultimately, a cure for this devastating disease. Join us in this enlightening conversation as we strive to unravel the mysteries of ALS and pave the way for a brighter future.

If you enjoyed hearing from Dr. Short, listen to Episode #106 of DNA Today where he shared about the genetics of autism. Dr. Short also hosts Sano Genetics’ show, The Genetics Podcast; you can hear our host Kira Dineen on Episode #15. She will also be a panelist on Sano Genetics’ upcoming webinar exploring newborn screening, stay tuned! A few years ago, Kira was the writer of a Sano Genetics blog series, “Explained By A Genetic Counselor”. 

If you want to hear from a patient perspective we highly recommend Episode #16 of It Happened To Me with Brooke Eby. It’s the most popular episode of the podcast by far (nearly 10,000 views on YouTube)! Kira Dineen is also the Executive Producer of the show. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 275 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Happy Rare Disease Month! Did you know why February was chosen? It's because it harbors the rarest day of the year, February 29th, which coincides with Rare Disease Day. To kick off this special month, we're thrilled to share a poignant episode of the "It Happened To Me Podcast," where rare diseases take center stage. 

Our host, Kira Dineen, is the Executive Producer of the "It Happened To Me" podcast and had the privilege of co-hosting this episode, delving into the complexities of Wolfram Syndrome. Our guest is a parent of a child with Wolfram Syndrome, while one of the hosts of the show (Cathy) also grapples with this condition. This unique dynamic led to a deeply insightful conversation, filled with personal experiences and valuable insights. We hope you'll enjoy and learn from this discussion as much as we did.

Wolfram Syndrome is a rare recessive genetic condition with profound implications. Our guest on this episode is Stephanie Snow Gebel, a parent and advocate who has dedicated herself to raising awareness and advancing research through the Snow Foundation for Wolfram Syndrome. Stephanie shares her journey as a parent of a child diagnosed with Wolfram Syndrome, offering insights into diagnosis, management, advocacy, and hope.

Understanding Wolfram Syndrome:

• Stephanie describes Wolfram Syndrome, outlining its complex array of symptoms, including diabetes, optic nerve atrophy, vision loss, deafness, loss of taste and smell, and urinary and bladder dysfunction.

The Wolfram Journey:

• Stephanie recounts her journey as a parent of a child with Wolfram Syndrome, from the initial noticing of symptoms to diagnosis and beyond.

Diagnosis and Symptoms:

• Stephanie shares about her daughter’s symptoms and experiences with Wolfram Syndrome, shedding light on the challenges faced.

The Role of the Snow Foundation:

• Stephanie discusses the creation and mission of the Snow Foundation, highlighting its impact in filling a void and driving research efforts forward.

Treatment and Management:

• Insights into managing Wolfram Syndrome, including treatment of individual symptoms such as diabetes and vision loss.

Current Trials and Hope for the Future:

• Stephanie provides updates on current trials, discussing the goals and implications for patients with Wolfram Syndrome.
• Exploring the potential of trials to slow progression or offer hope for a cure.

Advocacy and Awareness:

• The role of advocacy and organizations like The Organization for Rare Disorders in raising awareness and supporting patients with Wolfram Syndrome.

Life with Wolfram:

• An update on Stephanie’s daughter’s current status, prognosis, and how she is managing with Wolfram Syndrome.

Closing Thoughts and Advice:

• Stephanie shares her insights and advice for listeners, emphasizing the importance of advocacy, awareness, and hope in the face of rare diseases like Wolfram Syndrome.

As we conclude this insightful conversation with Stephanie Snow Gebel, we are reminded of the resilience, courage, and hope that shine through in the face of challenges posed by Wolfram Syndrome. Join us in raising awareness, supporting research, and fostering hope for a brighter future for individuals and families affected by this rare condition.

The Snow Foundation is a collective voice for Wolfram syndrome patients, working towards a cure for Wolfram syndrome and developing novel therapies for diabetes, vision loss, hearing loss and neurodegeneration.

Please be sure to check out more episodes of It Happened To Me, just search the title in whatever podcast player you use to listen to DNA Today!

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 270 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

As we delve into the intricacies of ENPP1 Deficiency Disorders, Dr. Yves Sabbagh and Christine O’Brien provide invaluable insights into genetics, diagnostics, treatment, and collaborative efforts between the patient community and pharmaceutical companies. Join us in this illuminating conversation, as we navigate the complexities of GACI and explore avenues for a brighter future in managing these conditions.

Yves Sabbagh, PhD, is senior vice president and chief scientific officer, joining Inozyme in October 2020. Dr. Sabbagh brings to Inozyme more than 20 years of experience in rare genetic disorders and mineral metabolism with responsibilities leading to the identification and evaluation of novel therapeutic approaches and translating them into clinical candidates.

Prior to joining Inozyme, Dr. Sabbagh served as the head of Rare Renal and Musculoskeletal Diseases research at Sanofi. Prior to that executive role, he held scientific roles of increasing responsibility at Sanofi and Genzyme Corporation spanning endocrine, renal and rare bone diseases including driving the strategy for bone indications. Prior to his corporate experience, he was an instructor at the Harvard Medical School in the Endocrine unit. Dr. Sabbagh has co-authored more than 40 peer-reviewed publications and book chapters and is a member of several scientific societies. Dr. Sabbagh received a BSc in biochemistry from McGill University, an MSc in microbiology from Université Laval and a PhD in biology from McGill University.

Christine O’Brien lives outside of Boston, Massachusetts with her husband Michael and their 3 children.  Her two oldest children are both living with ENPP1 Deficiency.  Her husband and son also have Loeys-Dietz Syndrome.  She is a founding member and co-president of GACI Global, the only patient advocacy group that exists for patients with GACI / ARHR2 caused by ENPP1 Deficiency or ABCC6 Deficiency.  Prior to joining the ranks of medical mamas everywhere who manage therapies, appointments, and medications, she was an elementary school guidance counselor.  Today, in addition to her work with GACI Global, Christine currently juggles raising children with part time jobs as a photographer and the director of customer service at British Swim School of Greater Boston.  

Exploring the Genetic Causes:

- Dr. Sabbagh explains the genetic causes of GACI, shedding light on the involvement of genes such as ABCC6 and ENPP1.

- Does the gene involved determine the type of GACI?

Diagnostic Challenges and Genetic Testing:

- The necessity of genetic testing for diagnosis and potential programs to offset the cost to patients.

- Christine discusses the challenges patients face in obtaining an accurate diagnosis and the impact of the diagnostic odyssey on families.

Symptoms and Challenges Across Lifespan:

- Understanding the symptoms of ENPP1 Deficiency Disorders throughout the lifespan and the challenges they pose in disease comprehension.

- What signs should healthcare providers be aware of across different specialties?

Understanding PPi and Its Role:

- Dr. Sabbagh elaborates on the role of PPi in the body, highlighting differences in individuals with GACI and its implications.

Current Treatment Options and Unmet Needs:

- Insights from Dr. Sabbagh on existing treatment options and unmet medical needs in ENPP1 Deficiency disorders.

Partnerships and Collaboration:

- Christine provides insights into the partnership approach between patient communities and Inozyme Pharmaceuticals.

- How does Inozyme collaborate with the patient community to address challenges?

Hope for the Future:

- Dr. Sabbagh discusses INZ-701 and its potential in addressing the challenges associated with GACI.

- An overview of the clinical trial program underway for ENPP1 Deficiency treatment.

Future Hopes and Advancements:

- Christine shares her hopes for advancements in GACI research, diagnosis, and treatment, emphasizing the importance of continued progress.

Prevention Genetics Genetic Testing Program for ENPP1 and ABCC6

Inozyme Pharma and Rady Children’s Institute for Genome Medicine’s Sponsored Ultra-rapid Whole Genome Sequencing Offered for Select Critically Ill Infant (Including Suspected GACI)

GACI Global Organization

Inozyme 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 270 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

This episode was originally released on the Patient Empowerment Program podcast, where our host Kira Dineen serves as a Producer. Sometimes you might even hear Kira’s voice in promos and ads. 

In this podcast, Dr. Stan Crooke and Dr. Gleeson discuss the importance of genomics for neurology and how genetic information is changing how the medical community approaches neurological diseases.

Dr. Joseph Gleeson is n-Lorem’s Chief Medical Officer and holds a Rady Children’s Hospital Auxiliary Endowed Professorship of Neuroscience. He is an Investigator with the Simons Foundation for Autism Research Initiative, and an Elected Member of the National Academy of Medicine.

Diagnosing a rare disease can be incredibly difficult. Over the past 10 years, advances in genomic sequencing coupled with an explosion of research on the functional consequences of mutations in genes are reshaping how the medical community thinks about rare diseases. Being able to evaluate a patient’s entire genetic makeup often allows physicians to identify mutations in genes that are causal for disease.  These mutations can be common, meaning that they are found in many patients with a particular disease.  These mutations can be incredibly rare (often one patient in the world; n-Lorem refers to them as nano-rare).   For a patient that has a gene mutation that is rare, they often have no therapeutic options.

How many patients have mutations that have never been identified? Dr. Gleeson estimates that 90% of all gene mutations that have been identified in recent years have never been identified before.

Access to genome sequencing is becoming more and more available and as such, the rare-research community is finding it easier to diagnose patients properly with information from databases, leading to an influx of newly discovered gene mutations and n-of-1 individuals. Gleeson and his team at UCSD have identified that out of the over 2 million known human mutations, there is a viable path for ASO or gene therapy treatment for half of them.

On This Episode We Discuss:

• The impact of genomic sequencing in medicine
• The difference between a genotype and phenotype
• How often a patient is identified with a genetic mutation unique to them
• Focusing on the underlying cause of disease and not just treating symptoms
• A viable path for treatment for how many gene mutations?
• Why he chose to become n-Lorem’s Chief Medical Officer

Dr. Joe Gleeson studied chemistry as an undergraduate at UC San Diego. While in college, he frequently volunteered at a hospital and decided that practicing medicine would be a great way to apply his understanding of chemistry. Particularly, he wanted to figure out how the brain works while focusing on brain disease. Dr. Gleeson continued his education by attending the Pritzker Medical School at the University of Chicago, and then completed his residency and fellowship at Harvard. While in medical school, his eyes were opened to child neurology – understanding how the brain forms and how humans mature.

Immediately upon practicing pediatrics, Dr. Gleeson noticed that most patients suffering from rare diseases didn’t have or would never receive a diagnosis. It was obvious to him that to change the lives of these patients, researchers must learn more about the diseases to allow physicians to not just treat the symptoms, but to combat the gene to reduce the severity of the phenotypes.

Diagnosing a rare disease can be incredibly difficult. Genomics has made a massive difference in the medical field over the past 10 years by allowing doctors to see a patient’s entire genetic makeup. Finding a patient who is the only person in the world affected by a specific disease, or an n-of-1 patient, is surprisingly common. Gleeson estimates that 90% of all mutations identified are unique. As technology advances, the rare-research community is finding it easier to diagnose patients properly with information from databases, leading to an influx of newly discovered gene mutations and n-of-1 individuals. Gleeson and his team at UCSD have identified that out of the over 2 million known human mutations, there is a viable path for ASO or gene therapy treatment for half of them.

Dr. Gleeson also serves as the Chief Medical Officer of n-Lorem, aiming to address unique genetic mutations with ASO technology – the ultimate in personalized medicine. Excited and completely bought in, Dr. Gleeson is hopeful that n-Lorem will be able to successfully discover and develop personalized experimental ASO medicines for thousands of patients over the next decade – for free, for life.

Please be sure to check out more episodes of the Patient Empowerment Program podcast, just search the title in whatever podcast player you use to listen to DNA Today! Or head over to the podcast’s listing on here n-Lorem’s website. 

Stay tuned for the next new episode of “DNA Today” next Friday! New episodes are released every Friday. In the meantime, you can binge over 270 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

“DNA Today” is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

This episode was originally released on It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes you might even hear Kira join as a guest host especially when there will be genetic topics. 

It Happened To Me is a rare disease and medical challenges podcast. The mission of the show is to create community as listeners confront the toughest challenges in life. All of us will experience health hardships. The real question is, how do we adapt? That’s the focus of It Happened To Me. The podcast explores how to overcome limitations and live a full and satisfying life. Drawing on their own health challenges, hosts Cathy Gildenhorn and Beth Glassman interview guests who share stories and research to help others succeed in the face of difficult health obstacles. 

In this episode, we were honored to have Dr. Andrew Carey as a guest. As a disclosure, Dr. Carey is the co-host Cathy Gildenhorn’s doctor who diagnosed her rare disease, Wolfram Syndrome. Andrew R. Carey, MD (he/him) is an Assistant Professor of Ophthalmology in the division of Neuro-Ophthalmology at the Wilmer Eye Institute. He specializes in neuro-ophthalmic disorders such as optic neuritis, uveitis related papillitis, ischemic & hereditary optic neuropathies as well as diseases of the retina, including age-related macular degeneration, diabetic retinopathy, toxic retinopathies and inherited disorders of the retina such as retinitis pigmentosa.

As we unravel the complexities of neuro-ophthalmic disorders and rare diseases, Dr. Andrew Carey provides a wealth of knowledge and guidance. Join us in this enlightening conversation, gaining insights into the diagnostic journey, the detective work of a neuro-ophthalmologist, and the promising future of research in this field.

Defining Neuro-Ophthalmology:

- An exploration of what neuro-ophthalmology entails and indications of when individuals should seek the expertise of a neuro-ophthalmologist.

Eyes as Windows to Rare Diseases:

- Discussion on the potential for diagnosing rare diseases through eye examinations.

- Identifying the type of eye doctor suitable for evaluating and diagnosing rare diseases.

Diagnostic Journey and Recognizing Symptoms:

- Dr. Carey shares insights into a typical diagnostic journey, illustrated by Cathy's experience with Wolfram syndrome.

- The significance of recognizing atypical symptoms and the role it played in Cathy's diagnosis.

Referral Process and Timely Treatment:

- Understanding the referral process to a neuro-ophthalmologist.

- Strategies to help patients find treatment in a timely manner.

Dr. Carey as a Medical Detective:

- Dr. Carey's role as a detective in diagnosing various health conditions through eye examinations.

- An exploration of different types of optic neuropathies and their distinctions.

Communication with Eye Doctors:

- Emphasizing the importance of open, detailed, and comprehensive communication about symptoms with eye doctors.

Wolfram Syndrome and Rare Diseases:

- Dr. Carey's journey of learning about Wolfram syndrome, whether in school or through practical experience.

- Insights into diagnosing rare diseases and their genetic components.

Demographics of Rare Disease Patients:

- Understanding the age demographics of patients with rare diseases – pediatric, adult, or both.

Wolfram Research and Future Outlook:

- Dr. Carey shares details about his research on Wolfram syndrome and its goals.

- How listeners can get involved, learn more, or contribute to support research efforts.

The Future of Rare Diseases and Genetic Optic Neuropathies:

- Dr. Carey provides a glimpse into the future of rare diseases and genetic optic neuropathies.

Closing Advice:

- Dr. Carey shares valuable advice for listeners as they navigate potential neuro-ophthalmic concerns or rare diseases.

Please be sure to check out more episodes of It Happened To Me, just search the title in whatever podcast player you use to listen to DNA Today!

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 270 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

In this episode we dive deep into two crucial reproductive genetic topics with the knowledgeable and experienced genetic counselor, Kelly Loggenberg. Joining us from Next Biosciences, a Female-led South African Biotechnology company specializing in Reproductive Genetic Testing, Kelly sheds light on Preimplantation Genetic Testing for Aneuploidy (PGT-A) and Genetic Testing of Miscarriage, also known as Products of Conception (POC).

Overview of PGT-A:

- Kelly provides an overview of Preimplantation Genetic Testing for Aneuploidy (PGT-A) and its role in reproductive genetic testing.

- Reasons why patients or couples opt for PGT-A and the decision-making information it provides.

NIPS vs. PGT-A:

- The distinctions between Non-Invasive Prenatal Screening (NIPS) and PGT-A, exploring conditions that NIPS can screen for that PGT-A may not cover.

- The necessity of NIPS when a couple has opted for PGT-A for their embryos.

Challenges and Ethical Considerations:

- Discussion on the challenges and ethical considerations associated with PGT-A.

- How genetic counselors navigate these discussions with patients.

Products of Conception (POC) Testing:

- Insight into Products of Conception (POC) testing and the situations prompting individuals or couples to choose this genetic testing.

- Contribution of POC testing to understanding miscarriages and its role in future reproductive planning.

Practical Aspects of POC Testing:

- Clarification on whether individuals can bring in tissue for POC testing after a miscarriage at home or if a follow-up procedure is required.

Regional Variations and International Experience:

- Kelly's international experience in the UK and the potential variations in acceptance or utilization of PGT-A and POC testing in different regions/countries.

Technological Advancements:

- How technology and advancements in genetic testing have influenced the landscape of reproductive genetic testing during Kelly's career.

The Future of Reproductive Genetic Testing:

- Kelly's insights into the future of reproductive genetic testing and potential breakthroughs or improvements on the horizon.

- Exciting emerging technologies or research areas within reproductive genetics.

About Kelly Loggenberg:

Kelly holds an MSc (Med) in Genetic Counselling from the University of Cape Town, South Africa, with over 15 years of experience in clinical and research settings. After a decade as a genetic counselor in the UK, she returned to South Africa in 2018. Currently, Kelly serves as the in-house genetic counselor at Next Biosciences, offering valuable advice on preimplantation genetic testing, non-invasive prenatal testing, and products of conception testing to clinicians and patients alike.

As we explore the complexities and advancements in reproductive genetic testing, Kelly Loggenberg provides invaluable insights into the present and future of this rapidly evolving field. Tune in to the podcast to gain a deeper understanding of these essential topics and their impact on reproductive health.

Be sure to check out Episode 221 of DNA Today that Kelly recommended during the episode. In this episode we interview a couple of her fellow South African Genetic Counseling colleagues, Samantha Bayley and Tina-Marié Wessels.

Stay tuned for the next new episode of DNA Today on January 12th! New episodes are released every Friday. In the meantime, you can binge over 270 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Can computers diagnose genetic conditions? Could we train computers to analyze photos of people to help geneticists and other healthcare providers diagnose conditions based on physical features? 

Join the visionary journey as our host Kira Dineen sits across from the insightful Robert Boscacci, the mind behind "The Spring of Sight," and unravels the intertwining of computer vision and genetic diagnosis. Plunge into a dialogue that traverses Rob's transition from the digital effects of television to the cutting-edge of AI, illuminating the intricate process of equipping computers to decode our visual world and its transformative impact on medical science. Our discussion explores the precise identification of genetic disorders, offering a glimpse into a future where technology and genetics coalesce with astonishing clarity. 

The episode ascends further as we scrutinize the nuanced realm of data and bias in teaching machines to see. We dissect the transition from traditional rule-based algorithms to the nuanced world of data-driven AI learning, recognizing the significance of diverse datasets in averting biases—a fundamental aspect when addressing diagnoses across a spectrum of conditions, like the distinctive features of Treacher Collins syndrome. Our conversation turns to the challenges healthcare faces in adopting AI, from stringent validations to the delicate dance of applying AI without overshadowing human expertise. Dive with us into the profound implications of AI in healthcare, where the fusion of human and machine intelligence could redefine the horizons of disease diagnosis and treatment.

In The Spring of Sight, Robert Boscacci draws from his double background in digital film production and machine learning to explore the utility of computer vision with industry experts. In the burgeoning field of computer vision, researchers and entrepreneurs build systems to extract meaning from digital images in unprecedented new ways, and even generate convincing new synthetic images. As advancements in the field carry in a tidal wave of promising use cases, it becomes increasingly clear that we'll have to implement nuanced policies to contend with their double-edged nature.

Robert Boscacci is the former Data Science Lead at Butter Works, a startup that used computer vision to analyze hundreds of thousands of social media videos for clients like Disney+, Netflix, Spotify, and ViacomCBS. He comes from a background in New York City’s film post-production industry, with IMdB credits as a film colorist and dailies technician on Netflix features and episodic productions.

Boscacci is curious about how tech policy can become more proactive, so that communities and organizations can maximize the utility and minimize the harm of the cutting edge. He hopes to encourage readers from all walks of life to join the conversation around tech and policy—so that the folks who normally get steamrolled in the name of progress are more empowered to make their voices heard, and those driving the steamrollers become more aware of themselves.

Boscacci is the caricature of a millennial Brooklyn hipster: Picture him wearing his nearly non-prescription glasses, dismounting his fixie, and tapping to pay to slurp a single-origin espresso on his way to the nonprofit repertory cinema. He un-ironically holds a fishing license from the state of New York and uses it to catch Bluegill in the lake at Prospect Park.

Episode Segments

0:00:43 - Computer Vision for Diagnosing Genetic Conditions 

0:04:25 - Exploring the Concept of Computer Vision 

0:09:55 - Diagnosing Genetic Conditions With Computer Vision

0:12:07 - Transfer Learning for Vision Models

0:20:40 - Computer Vision in Diagnosing Rare Diseases 

0:26:51 - The Importance of Embracing Medical Technologies

Be sure to enter our giveaway to win a signed copy of Rob’s book, “The Spring of Sight” via our X (Twitter), Instagram, Threads, and LinkedIn. Look for the post of me and Rob with the book! 

Can’t wait to see if you win? Buy the book here on Amazon. If you speed read the book in one sitting like our host Kira did, continue reading more from Rob on Medium. You can also watch the shows and films that Rob was on the post-production teams via his IMDb page. And of course he’s on LinkedIn. 

Stay tuned for the next new episode of DNA Today in 2024! We will be continuing our release schedule of new episodes every Friday. In the meantime, you can binge over 260 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We are diving deep into genetic technology, specifically optical genome mapping and transcriptome analysis. Joining us to explore these technologies is Dr. Peter Nagy. 

Dr. Nagy graduated from Pécs Medical University, Hungary, in 1989. He received his PhD in biochemistry in 1995 from Purdue University. He completed his AP/Molecular genetic pathology residency and postdoctoral fellowship training at Stanford University Medical Center. Dr. Nagy is a member of ASCP and CAP and serves as a CAP laboratory inspector. He is board certified in Anatomic and Molecular Genetic Pathology and has worked as molecular laboratory director since 2004 at the University of Iowa, Columbia University and Medical Neurogenetics Laboratories. Dr. Nagy’s research interest is the development and application of next generation sequencing and other genomic technologies for molecular diagnostics. He has authored more than 30 articles published in such journals as Cell, Molecular Cell, and Proceedings of the National Academy of Sciences.

• Challenges associated with diagnosing rare genetic diseases
• How various tiers of genetic testing (panels, exome, whole genome) cater to different clinical needs
• Advantage of optical genome mapping compared to traditional cytogenetic analyses like FISH, chromosomal microarray (CMA), and whole exome sequencing (WES)
• Power and accuracy of combining whole genome sequencing and optical genome mapping 
• Advantages of transcriptome analysis
• Navigating discussions with healthcare providers and patients to ensure they understand the implications and benefits of various genetic testing technologies
• Impact of optimal genome mapping and transcriptome analysis on precision medicine

Learn more about Praxis Genomics on their website. Dr. Nagy has done research on the phylogenetic origins of the Árpád Dynasty, check out this paper in which he is the first author and this paper. In this interview we also referenced DNA Today Episode 247 about DMD Exon Skipping.   

Stay tuned for the last 2023 episode of DNA Today on Friday, December 21st! This is a special interview as I sat down with author Robert Boscacci in NBC Universal Studios to pick his brain about how computer vision can be used as a tool to diagnose genetic conditions. 

New episodes are released every Friday. In the meantime, you can binge over 265 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We are thrilled to welcome guest Blair Stevens, a certified genetic counselor and Director of Prenatal Genetic Counseling Services at McGovern Medical School at UTHealth Houston and Prenatal Genetics media expert for the National Society of Genetic Counselors. Blair joins this discussion to shed light on the clinical utility of ancestry and its use in reproductive genetic counseling spaces.  

Joining as a co-host today is Dessiah Phillips, a genetic counseling student at Sarah Lawrence College. Together, we will explore ancestry data from both a clinical and educational perspective. Tune in as we delve into how this data is used in personalized medicine and tailoring healthcare solutions. 

Blair Stevens is a prenatal genetic counselor with over 15 years experience in direct patient care. She is an Associate Professor and serves as the Director of Prenatal Genetic Counseling Services at McGovern Medical School at UTHealth Houston. Blair specializes in helping families understand and adjust to unexpected prenatal diagnoses and counseling families with fetal anomalies identified on ultrasound. She has also served in various leadership positions within the National Society of Genetic Counselors.

• Historical and current use of genetic ancestry in healthcare
• Approaches and techniques of using ancestry data
• Challenges of using ancestry data
• How unknown ancestry impacts healthcare
• Assessing carrier status of conditions based on ancestry data
• Ethical considerations and the future for ancestry data

Stay tuned for the next new episode of DNA Today on Friday, December 22nd! New episodes are released every Friday. In the meantime, you can binge over 260 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2023. It’s hard to fit a year’s worth of genetics in one episode, let alone a half hour so we bring you this special double episode of DNA Today. 

Our host Kira Dineen is joined by two leaders in genetics, Dr. Eric Green and Dr. Brendan Lee. 

Dr. Eric Green

Dr. Eric Green is the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005). Throughout his career, he has authored and co-authored over 385 scientific publications. 

Dr. Green is a recurring guest on DNA Today, and he might hold the title as the guest who has been on the show the most times! He was featured on Episode #182 when we chatted about the Human Genome Project and the recent completion of the human genome sequence -- from telomere to telomere. Dr. Green was a panelist on the PhenoTips Speaker Series installment that our host Kira Dineen moderated about population genomics in clinical practice, this was also released on the DNA Today podcast feed as Episode #260. He was also on last year’s Genetic Wrapped episode (#214). 

Dr. Brendan Lee

As a pediatrician and geneticist, the overall mission of Dr. Brendan Lee’s research program is to translate the study of structural birth defects and inborn errors of metabolism into a basic understanding of development, disease and novel therapeutic approaches. In the area of metabolism, we have applied genetic approaches to the study of biochemical genetic disorders (specifically urea cycle disorders) as models of complex diseases (those involving nitric oxide dysregulation). This has led us to study the consequences of metabolic derangements broadly in the endocrine, cardiovascular, skeletal, renal and neurological systems. In the area of structural birth defects, we have studied paracrine and endocrine signaling pathways that regulate skeletal development including morphogens (TGF, Wnt and Notch), and extracellular matrix proteins and their modifications (e.g., collagen prolyl-hydroxylation) that contribute to the human skeletal dysplasias including brittle bone diseases and connective tissue diseases like Ehlers-Danlos syndrome. These developmental pathways have led us to ask how their dysregulation contributes to common diseases such as osteoporosis, osteoarthritis and bone cancer.

The mechanistic discoveries of my laboratory research program are translated into the clinical arena via clinical research that is performed as part of the Skeletal Dysplasia Clinic and the Metabolic Disorders Clinic at Texas Children’s Hospital, respectively, and as part of two NIH rare diseases clinical research consortia (the Brittle Bone Disorders Consortium and the Urea Cycle Disorders Consortium). My clinical research program began with stable isotopic measurements in humans and urea cycle disorder patients to better diagnose and assess new treatments. These human studies evolved into the assessment of nitric oxide flux in patients with UCDs and specifically in those with argininosuccinic aciduria. I have participated in and led both investigator-initiated and industry-sponsored interventional studies including the design and implementation of Phase II and III studies of a novel ammonia scavenger glyceryl-triphenylbutyrate in urea cycle patients; combinatorial phenylbutyrate/arginine treatment and nitric oxide supplementation in patients with argininosuccinic aciduria; and phenylbutyrate in maple syrup urine disease. In the area of skeletal dysplasias, I have studied the utility of zoledronic acid, teriparatide and anti-TGF treatments in pediatric and adult osteogenesis imperfecta. Our preclinical gene therapy studies have led to a clinical trial of helper-dependent adenoviral gene therapy in osteoarthritis. Finally, I have focused on advancing the diagnosis of genetic diseases via gene discovery, multi-omic approaches to phenotyping and mechanistic studies in the NIH Undiagnosed Diseases Network.

• The 20 anniversary of the completion of the Human Genome Project
  • Episode Recommendation: #182 Eric Green on the Complete Human Genome Project
  • Shoutout to listener Illham Ratbi who shared on our social media that this was among the top stories they were impressed with: “The complete sequencing of Y chromosome the last missing piece of human genome”

• New, specific gene editing may treat sickle cell disease 
  • Sharma A., et al. (2023). CRISPR-Cas9 Editing of the HBG1 and HBG2 Promoters to Treat Sickle Cell Disease. N Engl J Med. 389(9), 829-832. 
  • Episode Recommendation: #251 Diversifying Genetic Research with 23andMe (including sickle cell disease insight)
  • Episode Recommendation: #201 Sickle Cell Disease with Lifting the Veil
  • Episode Recommendation: #198 CRISPR Ethics with Sam Sternberg

• Maternal-only noninvasive prenatal genetic screening may be feasible and cost-effective for Mendelian disorders 
  • Hoskovec, J., et al. (2022). Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions. Genet Med. 25(2), 100334. 
  • Concerned about BillionToOne’s BabyPeek
  • Episode Recommendation: #224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne (Author of this article, Jennifer Hoskovec, is one of the guests)   

• Polygenic risk scores (PRS) and family history (FH) are independent indicators of inherited disease risk
  • Mars, N., et al. (2022). Systematic comparison of family history and polygenic risk across 24 common diseases. Am J Hum Genet. 109(12), 2152-2162.
  • Episode Recommendation: #168 Polygenic Risk Scores with Giordano Bottà

• Pharmacogenetic intervention reduces serious adverse drug events 

• • Swen, J.J., et al. (2023). A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open- label, multicentre, controlled, cluster-randomized crossover implementation study. Lancet. 401, 347–356.
  • Episode Recommendation: #174 Pharmacogenomics with Fulgent Genetics
  • Episode Recommendation: #229 Pharmacogenomics with Avni Santani

• Natural language processing helps to prioritize critically ill newborns for whole-genome sequencing
  • Peterson, B., et al. (2023). Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning. Genome Med. 15(1), 18.
  • Episode Recommendation: #226 NICU Whole Genome Sequencing with Hong Li and Madhuri Hegde (Our most shared episode of 2023 according to Spotify) 

• Predictions for 2024 including artificial intelligence 
  • Episode Recommendation: #231 ChatGPT and AI In Genetics with Daniel Uribe (Our most popular episode of 2023 according to Spotify) 

Be sure to read “Genomic Medicine Year in Review: 2023”. It’s not published, yet but we will update these show notes/blog post with the link when it is. Many of the landmark papers we discussed are highlighted in this article. Dr. Green is one of 14 co-authors that selected these top papers for the year. 

Stay tuned for the next new episode of DNA Today on Friday, December 15th! New episodes are released every Friday. In the meantime, you can binge over 265 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Nebula Co-Founder Kamal Obbad analyzes our host Kira Dineen’s genome!

Whole genome sequencing, once a futuristic concept, has now become an integral part of the genetic landscape. When this groundbreaking technology first emerged, it came with a staggering price tag. 

Picture this: It's 2003, and the Human Genome Project has just been completed, costing nearly $3 billion to sequence a single human genome. Fast forward 20 years to today, this looks radically different. Thanks to remarkable advancements in technology, the price of whole genome sequencing has plummeted to a fraction of what it once was. 

Nebula Genomics offers consumers whole genome sequencing and lifetime memberships for only $300. Yeah, that’s it; $300. So our host Kira Dineen couldn’t resist and sent off her cheek swab to Nebula to have her whole genome sequenced for the first time. To explore the results we are joined by Kamal Obbad, who is the co-founder of Nebula Genomics. Previously, he was a product manager at Google working within Google Research and ChromeOS. Kamal was a Gates-Cambridge Scholar at the University of Cambridge and is a graduate of Harvard University. Additionally, he is a Forbes 30 under 30 honoree.

• Pioneering Geneticist  Dr. George Church’s role with Nebula Genomics 
• Inspiration to start Nebula Genomics 
• Key benefits of having access to one's entire genome compared to limited genetic testing (like gene panels or even exomes)
• How Nebula helps consumers understand the 100 GBs of data produced from their whole genome sequence 
• What whole genome results provide and how scientifically accurate results are for each trait
• The process to decide what categories to include in Nebula’s WGS kit including autoimmunity, behavior, cancer, cardio, metabolism, and pregnancy. 
• Requirements for how much data needs to be able to back up the information in the reports
• How Nebula comes up with the likelihood for behavioral traits
• Exploring how people should or should not use the health related information
• How often people should check back with their whole genome sequencing lab for updates
• Additional traits Nebula is considering adding in the future

If you too want to have your whole genome sequenced by Nebula Genomics use code “DNATODAY” for 15% off here! We also are giving away a kit, so head over to our social media @DNATodayPodcast on Instagram, LinkedIn, X and Threads to enter. 

Keep up with Kamal on X (formerly Twitter) and LinkedIn. Also check out this cool article featuring Kamal. 

Stay tuned for the next new episode of DNA Today on December 8th! New episodes are released every Friday. In the meantime, you can binge over 260 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Ryan is the president and founder of California based non-profit, Living with XXY. Ryan is a 37 year-old with Klinefelter syndrome or 47,XXY. Klinefelter syndrome is the result of an extra X chromosome, affecting roughly 1 in 500 males. Ryan’s parents learned about his XXY diagnosis during his mother’s pregnancy. His experiences navigating XXY and those of the over 600 families he’s met along the way help guide and inspire the work Ryan does today.

While Ryan’s background includes work as a fine dining chef and action sports photographer, he currently spends most of his time advocating for his community through his non-profit. Living with XXY was officially established in 2019 and focuses on creating a community, spreading awareness and sharing positive traits for those with an XXY diagnosis. Living with XXY is growing everyday and has a reach of over 40 countries.

Ryan is currently traveling around the US, meeting with clinics, professors/students, other professionals and families to share the work of Living with XXY and create opportunities for connection for those with XXY.

• Basics of Klinefelter Syndrome aka XXY
• Processing his diagnosis at the age of 9 years old 
• Symptoms and challenges that people with XXY experience
• How symptoms can differ for people who are mosaic with XXY
• Taking testosterone 
• Typical way of learning of the XXY diagnosis 
• XXY affecting about 1 in 500 babies assigned male at birth, but historically, it’s been underdiagnosed (only 25% diagnosed in their life)
• The effect of NIPS changing how many people are diagnosed with XXY
• Debunking myths about XXY
• Positive traits many people with XXY have in common such as being “right brained”
• Support and resources “Living with XXY” offers to families and individuals affected by Klinefelter syndrome
• How “Living with XXY” engages with the medical community to promote more accurate understanding and care for individuals with XXY
• The global reach of “Living with XXY” with a presence in over 40 countries

Links mentioned during the episode: 

Living with XXY Resource Sheets (Kira’s Fav she gives to patients)

Living with XXY Podcast 

Strategies and advantages of early diagnosis in Klinefelter's syndrome

Facebook Support Group

Stay tuned for the next new episode of DNA Today on December 1st! New episodes are released every Friday. In the meantime, you can binge over 260 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We return in person to record at NBC Stamford Studios to learn about Ehlers-Danlos syndromes, we are joined by cardiovascular genetic counselor, patient advocate, and YouTuber Izzy Kornblau.

Izzy Kornblau, MS, CGC, is a cardiovascular genetic counselor at the Mount Sinai Medical Center in New York. Izzy has over 3 years of research experience in the Ehlers-Danlos syndromes (EDS). Her current research focus is investigating the genetic etiology of hypermobile Ehlers-Danlos syndrome using a candidate gene first identified by the medical university of South Carolina. 

Izzy began making YouTube videos in 2018. content includes educational videos about genetics, genetic counseling, EDS, and navigating the healthcare system and social  situations with a chronic illness. She graduated with a master’s of genetic counseling from the Icahn School of Medicine at Mount Sinai in 2023 and completed her undergraduate degree at Washington University in St. Louis in 2019. She has over 45,000 YouTube subscribers with over 100 published videos. 

• Izzy’s Youtube channel success covering genetics, genetic counseling, EDS, and navigating healthcare with a chronic illness.
• Insights into Ehlers-Danlos syndromes: Understanding different types under the EDS umbrella and their impact on individuals and families.
• Personal journey: A genetic counselor and individual with EDS – how personal experience shapes genetic counseling approach.
• Personal insights in supporting patients and families dealing with EDS: Leveraging firsthand knowledge to provide effective support.
• Signs and referrals for EDS evaluation: Addressing the often-overlooked condition and signs that may prompt a genetics referral.
• Challenges and opportunities in career as a genetic counselor with EDS: Shaping perspective and influencing genetic counseling approach.
• Advice for those newly diagnosed with EDS: Providing guidance, especially on self-advocacy.
• Fostering community and support: Building connections for patients and peers dealing with genetic conditions.
• Research on hypermobile EDS genetic etiology: Investigating candidate genes and contributing to the understanding of the condition.
• Research background informing genetic counseling: How a research background shapes the approach to genetic counseling, particularly in EDS.
• Tips for navigating genetic conditions and healthcare: Advice for individuals and families facing challenges in these areas.
• Key issues in genetics and healthcare accessibility: Discussing important challenges that need more attention.
• Importance of raising awareness about genetic conditions: The impact on early diagnosis and treatment.
• Legacy in the field of genetics: As a counselor and content creator, the desired impact on the field and community.

Check out Izzy’s YouTube channel. We recommend this video where Kira and Izzy react to genetic scenes in TV shows like Glee, Grey’s Anatomy, and Broad City. 

Stay tuned for the next new episode of DNA Today on Friday November 24th, 2023! New episodes are released every Friday. In the meantime, you can binge over 260 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

On DNA Today we are often exploring how genomic data is altering healthcare. We will continue to do so in this episode with the CEO of Igentify, Dr. Doron Behar. He holds MD and PhD degrees from the Technion - Israel Institute of Technology. We are going to dive into the genetic counseling bottleneck and how companies like Igentify, are working to alleviate it. 

Dr. Doron M. Behar, CEO, Igentify holds an MD and PhD degrees from the Technion - Israel Institute of Technology. At his capacity as an MD he graduated two specialization programs in Internal Medicine and Critical Care Medicine in Rambam Medical Center, Haifa Israel and a third specialization program in Medical Genetics at the Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus. In parallel, his PhD thesis was in the field of Population Genetics. Dr. Behar's research area of interest is across the broad range of evolutionary genomics, ancestry, phylogenetics and translational genomics.

Dr. Behar has multi-year background experience in the development of genetic testing for the public, using a direct internet based customer approach, at his capacity as the chief medical officer of Gene by Gene Ltd. During the course of his work he gained expertise in the various aspects of mass genotyping, including regulation, privacy, database creations and mining, website designs, automation, machinery, genetic analysis, quality reassurance, and more. His primary interest is in developing robust, low-priced genetic testing to the general public that will allow the hope of responsible and personalized genetic medicine to any individual, worldwide.

• Leveraging technology to alleviate the pressure and effects of burnout
• How to ensure we don’t lose a personal connection in the age of digital age
• The role of precision medicine in the genomics revolution 
• Challenges of implementing technology in the healthcare system presents challenges
• The “Genomic Wallet” allowing our genetic information to be accessible 
• Advances in genomics on the horizon 

Learn more at igentify.com. Stay tuned for the next new episode of DNA Today on Friday, November 17th! New episodes are released every Friday. In the meantime, you can binge over 260 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode we are learning about tuberous sclerosis complex (TSC) and are joined by guest Dr. Ian Miller. 

Dr. Ian Miller is a pediatric epileptologist who specializes in pediatric epilepsy, including genetic epilepsy. He is an advocate for genetic testing in every individual with epilepsy, even if they already have a "syndrome".

He serves as Vice President in Clinical Development at Marinus Pharmaceuticals. Dr. Miller has 14 years of experience at Nicklaus Children's Hospital in Miami, where he most recently served as the Chair of the Neurology Department, and on the Board of Directors for First Choice Neurology (a private practice of over 80 neurologists). Within the hospital he was the founding Medical Director of the Ion Channel Epilepsy Program, co-Director of the Tuberous Sclerosis Program, and the Director of Neuroinformatics. 

Dr. Miller’s research experience includes participation in all five of the pivotal trials for cannabidiol, including one as a first author. He was also a primary investigator for fenfluramine, nasal diazepam, and neuropace, among others, and has provided input regarding trial design and endpoints for three early gene therapy candidates in SCN1A, and enrolled patients in one of them as PI. 

He is a member of the Medical Advisory Board for the Dravet Syndrome Foundation (DSF), and a member of the American Epilepsy Society. He is board certified in Neurology with a special qualification in Child Neurology, as well as Clinical Neurophysiology, Epilepsy, and Neuroimaging. Dr. Miller testified with the DSF at the FDA in 2018 regarding the need for an ICD10 code for Dravet syndrome, leading to the approval of the G40.83 and its subgroups in October of 2020. 

Dr. Miller received his M.D. degree from the University of Iowa, in Iowa City, where he grew up. He completed residency and fellowship training at the University of Utah and the University of Washington before completing Clinical Neurophysiology fellowship at Miami Children’s Hospital. 

• Overview of TSC
• Methods to diagnose TSC 
• The genetics and potentially inheritance behind TSC
• Common early signs of TSC include skin abnormalities, seizures, and developmental delays
• Early intervention including medications and surgical procedures
• Challenges faced by individuals with TSC include managing seizures and cognitive difficulties
• The Marinus TSC clinical trial, currently in phase III

To learn more about participating in clinical studies for TSC, you can visit knowrare.com/tsc or trusttsctrial.com. You can also visit TSC Alliance, the organization that Dr. Miller recommended during the episode. 

Stay tuned for the next new episode of DNA Today on November 10th! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We are sharing the twenty-fifth installment of the PhenoTips Speaker Series, which was hosted by our own, Kira Dineen. She interviewed a panel of international industry leaders in clinical genomics, Dr. Eric Green, Dr. Julian Barwell, and Dr. Fiona Brinkman, discuss the benefits, roadblocks, and practical implications of applying population genomics in clinical practice.

Applying population genomics in clinical practice has the potential to revolutionize healthcare by enhancing disease prediction, enabling personalized medicine, and advancing medical research. By leveraging the wealth of genomic information available, clinicians can provide more targeted and effective treatments, ultimately improving patient care and outcomes. However, essential concerns such as ethical considerations, data privacy, and the responsible use of genetic information, must be addressed as population genomics becomes an increasingly integral part of modern medicine.

Dr. Eric Green is the third appointed director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). Appointed director by Dr. Francis Collins in 2009, Dr. Green has been at the Institute for more than 25 years, during which he has held multiple key leadership roles. He served as the Institute’s scientific director for 7 years, chief of the NHGRI Genome Technology Branch for 13 years, and founding director of the NIH Intramural Sequencing Center for 12 years. For just over two decades, Dr. Green directed an independent research program that included integral start-to-finish roles in the Human Genome Project and groundbreaking work on mapping, sequencing, and characterizing mammalian genomes. During his career, Dr. Green has authored and co-authored over 385 scientific publications.

Dr. Julian Barwell is a consultant in clinical genetics at the University Hospitals of Leicester with a particular interest in public engagement, stakeholder group co-creation, and the implementation of genomic medicine projects. His outreach work includes launching the cancer genomics branch of the 100,000 genome project on the BBC Breakfast sofa, co-authoring the children's book, “What is DNA?”, as well as answering clinical queries for the National Hereditary Breast Cancer Helpline. In addition to his over 70 academic publications and chapters in four other books, he has helped establish prostate cancer tumour sequencing for BRCA pathogenic variants and led an awareness and outreach campaign for men at high risk of aggressive disease. Currently, Dr. Barwell is developing a digital genomic strategy including patient self-navigation guides for patients with Lynch syndrome, aiming to expand this to other patient groups. He is also developing an interventional research strategy and holistic care clinic for Fragile X syndrome in partnership with the Fragile X Society and Research Space, a clinical research facility he co-established. As a Professor at the University of Leicester, Dr. Barwell lectures on inherited cancer susceptibility, cancer genomics, bioethics, 21st-century healthcare, and working with different types of media.

Dr. Fiona Brinkman is a Distinguished Professor in Bioinformatics and Genomics at Simon Fraser University, most known for R&D of widely used software that aids more integrative, systems-based analyses of microbe and human genomics/transcriptomics data. She leads CHILDdb data integration, enabling more integrative analysis of diverse CHILD Cohort Study data, as well as co-leading development of the IRIDA platform, which is now used as the primary platform for Canada’s Public Health Agency to track infectious disease outbreaks using combined epidemiological, lab and genomics/metagenomics data. Dr. Brinkman enables better genomic data sharing in an ethical framework by co-coordinating two large consortiums consisting of researchers from 15 countries. Dr. Brinkman serves on several committees and Boards, including the Scientific Advisory Board for the European Nucleotide Archive, and has recently Co-Chaired a Pan-Canadian Cohorts Working Group. A fellow of the Royal Society of Canada, her awards include a TR100 award from MIT, Thompson Reuters “World’s Most Influential Scientific Minds”, and recently a Distinguished Alumni Award from the University of Waterloo and SFU Distinguished Professorship. Her interests include developing more preventative, sustainable approaches for disease control, using microbiome data as a sentinel for animal or ecosystem health, and factoring in Indigenous Science approaches.

Kira Dineen, MS, LCGC, CG(ASCP)CM (she/her) has over a decade of podcast experience fueled by a passion for science communication. She has hosted and/or produced 7 podcasts including four rare disease/genetics shows. Her main genetics podcast, DNA Today, is in the top 1% of podcasts globally. The show has won the Best Science and Medicine Podcast Award for three years running, among others. DNA Today has produced 250 episodes and counting with support from over 50 sponsors. She was accepted into The Podcast Academy and previously served on NSGC’s Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science at Sarah Lawrence College and is a licensed certified genetic counselor currently practicing prenatal in Connecticut.

In this panel discussion, an international panel of leaders at the forefront of genomics discuss:

• The optimal utilization and collection of genomic data
• Challenges to applying population genomics in clinical care
• The ethical considerations of data sets and methods to improve diversity
• Advancing clinical care through delivery models, channels, and technologies
• Best practices for leveraging population genomics in routine clinical care

If you want to hear more from Dr. Eric Green, check out his other two episodes on DNA Today: #182 about the complete human genome project and #214 recapping top genetic stories of 2022.

If you want to hear Dr. Julian Barwell discuss the 100,000 Genomes Project, listen to Episode 208 of DNA Today. 

Over the years we have shared multiple episodes of the PhenoTips Speaker Series, we recommend checking out all 25 episodes on their own podcast feed including Spotify and Apple Podcasts by searching “PhenoTips Speaker Series”. And our host Kira Dineen is the host of most of these installments!

Stay tuned for the next new episode of DNA Today on Friday November 3rd, 2023! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We want to acknowledge the war in the Middle East and its impact on this conference from a canceled session to protests close to the conference center. Regardless of how we view the war, it’s important we listen and support one another. 

You might be wondering why this episode was not released Friday morning like all of our episodes for the last few years… Well, we were busy at The National Society of Genetic Counselors Conference in Chicago which just wrapped. In order to be able to fully reflect on the conference we wanted to hold off on recording until the last day. Also this is why our host Kira Dineen’s voice is so strained because she was talking to so many of you. Our hearts are full! NSGC was incredibly fun this year! It was amazing to meet so many of you. Podcasting is very one way compared to other forms of digital media so it’s such a treat every year to meet people in person including many listeners who are genetic counselors and genetic counseling students. If we didn’t get to chat, please email in ([email protected]). 

Host Kira Dineen (she/her) is joined by fellow genetic counselor Catherine Mayo to recap and reflect on NSGC this year. Catherine Mayo (she/her), is a Genomic Science Liaison at Ambry Genetics. She is a board-certified genetic counselor interested in rare diseases, increased access to genetics services, and social justice in healthcare. She has previous experience in biotechnology and drug development in the Bay Area. Opinions in this episode are her own. 

Check out Catherine’s other appearance on DNA Today where we chatted about the film Gattaca, mostly how much technology in the film is no longer fiction. That’s Episode #110. We recorded this when we were roommates in grad school together and are members of Sarah Lawrence’s Class of 2020. 

October is also the 26th year anniversary of the movie’s release so our Patreon group is hanging on Zoom later this month to nerd out about it together! If you haven’t watched it, Gattaca is about a futuristic society where there is this disparity between people who were naturally conceived and those who were conceived through ART and are “designer babies”. 

National Society of Genetic Counselor (NSGC) 2023 Conference Sessions Discussed:

• You Can Do It, Too! Genetics Content Creation and Science Communication via TikTok, Instagram, Podcasting, YouTube, LinkedIn and More
• Janus Lecture - Family History: Exploring the Roots and Branches
• NSGC Professional Issues Panel: How to “Widen the Frame” and Bring Intersectionality to Your Genetic Counseling Practice
• Plenary Session: Say My Name, Say My Name: It's Time to Discuss the Problem with the Name "Genetic Counselor"
  • More info and discussion here
• The Most Important Omics of All: Economics of Healthcare Across Private, Public, and Not-for-Profit Organizations
• How to Build a Somatic Testing Protocol in Oncology: We’re Building the Plane While We’re Flying It
• Late Breaking Plenary Session: Embracing Artificial Intelligence in Genetic Counseling: Transforming Patient Care and Enhancing Clinical Outcomes

Readings Referenced:

• The Practical Guide to the Genetic Family History By Robin Bennett (March 2010)
• The Spring of Sight By Rob Boscacci (May 2023)
• Abandoning the word Caucasian (Oct 2023)
• Practice resource-focused revision: Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors (Sept 2022) 
• Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors (Sept 2008)
• Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors (Sept 1995)
• Comparison of Ophthalmologist and Large Language Model Chatbot Responses to Online Patient Eye Care Questions (Aug 2023)
• Scientists release a new human “pangenome” reference (May 2023)

DNA Today Podcast Episodes Referenced:

#110 Gattaca, 22 Years Later 

#182 Eric Green on the Complete Human Genome Project

#189 Building Inclusive Pedigrees with PhenoTips

#231 ChatGPT and AI In Genetics with Daniel Uribe

#235 Genetic Counseling History: ABGC Formation

#243 PhenoTips: Navigating Barriers in LGBTQIA+ Genetic Care

Curious about other NSGC conferences? We have recapped the last five years of conferences including 2019, 2020, 2021, and 2022. 

Stay tuned for the next new episode of DNA Today this Friday! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Prepare to uncover the mystifying realm of genetics as we bring you a thought-provoking conversation with Meena Mahey Kumar and Laura Fuqua from Blueprint Genetics. Together, we'll explore the pivotal role that human touch plays in interpreting genetic data, emphasizing the irreplaceable importance of meticulous analysis and individualized patient care. You'll learn how their unwavering dedication to transparency in classifying variants is a game-changer in patient outcomes.

You'll be captivated as Meena and Laura recount a riveting real-life instance of how technology, clinician collaboration, and data interpretation converged to bring about transformative medical management for a pregnant patient. Discover the intriguing concept of mosaicism and its profound influence on genetic interpretation. They will also shed light on the challenges and nuances of genetic testing, underscoring the vital necessity of human involvement in this complex process.

Our guests will also reveal how their trailblazing team at Blueprint Genetics has created innovative tests, pushing the envelope in coverage and detection of smaller deletions. We'll delve into the complexities of genetic testing and introduce you to the bioinformatics team's contribution at Blueprint Genetics. You'll understand how their unique 'human touch' continues to enhance patient care. Meena and Laura discuss the ongoing evolution in the field of genetics and how we can leverage these advancements to better serve patients and the wider community. 

Meena Mahey Kumar is the Senior Director of Clinical Genomics and supports the clinical genomics services (CGS) team at Blueprint Genetics. She actively volunteers in the Quest Inclusion and Diversity Council. She is board certified in genetic counseling by the American Board of Genetic Counseling and earned her Master of Science in Human Genetics from Sarah Lawrence College, NY. She is passionate about genomics in patient- centered healthcare and diversity in genomics. She supports efforts to make high quality genetic diagnostics accessible across the world and works to continuously add to the knowledge and conversation in genomics. Meena has worked in a pediatric, adult and prenatal genetics clinic setting before working in commercial genetics laboratories leading sales & marketing, and clinical genomics services initiatives. She believes in strong partnerships between clinic and lab for best patient outcomes.

Laura Fuqua is a Genomic Variant Scientist for Blueprint Genetics. As part of the global Clinical Interpretation team, she analyzes variants for their pathogenicity in human disease and collaborates across Blueprint and Quest to build genomic services. A proud member of the BpG Inclusion and Diversity subcommittee and the Quest Pan Asian Business Leaders provides opportunities for a welcoming and thriving workplace. Laura maintains active board certification by the American Board of Genetic Counseling and earned a master’s degree in genetic counseling from Brandeis University. Laura’s previous decade-long experience encompasses caring for and managing comprehensive medical care for patients with a personal or family history of genetic conditions, notably hereditary cancer and maternal fetal medicine. Currently, she is a member of the ClinGen Consortium TP53 gene expert panel, working to elucidate the clinical significance of VUSs for patients with Li Fraumeni syndrome.  

Learn more at blueprintgenetics.com and follow Blueprint Genetics on X (Formly Twitter), Facebook, and LinkedIn. 

Stay tuned for the next new episode of DNA Today where we will be recapping the National Society of Genetic Counselors’ Annual Conference in Chicago next week! Our host, Kira Dineen, will be there, so say hi if you run into her. Blueprint Genetics will also have a booth at NSGC so stop by as you explore the exhibit hall. 

New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

If you are a long time listener of DNA Today you know how fascinating and frightening we find CRISPR, you must be too if you clicked on this episode. So I wanted to share with you a new podcast I have started listening to called A CRISPR Bite. This is the first episode to get you hooked. 

CRISPR gene-editing technology came out as a massive biotech breakthrough in the last decade, but most people have still never heard of it. A CRISPR Bite is a five-part podcast series where food anthropologist Dr. Lauren Crossland-Marr takes listeners into the labs where researchers are tinkering with food genes, to help break down the problems they’re hoping to solve – and what’s at stake.

Stream the other four parts of this podcast series by searching, “A CRISPR Bite” in your podcast app. Let me know if you enjoy it as much as I am!

And if you finish the series and want more episodes that discuss CRISPR, I recommend listening to DNA Today’s Episodes 197, 198 and 84. 

Stay tuned for the next new episode of DNA Today next Friday on October 13th where we explore the interpretation side of reporting and discuss how important the “human touch” element is to the process. For this conversation I will be joined by Blueprint Genetics’ Senior Director of Clinical Genomics’ Meena Mahey Kumar and Genomic Variant Scientist Laura Fuqua. If you are going to the NSGC conference in Chicago in a couple weeks then be sure to stop by the Blueprint Genetics Booth!

New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

This is the second half of our conversation about an important topic in genetic counseling that is not talked about enough, burnout and transitioning to roles outside of the field. Joining us for this conversation are genetic counselors, Tiana Rogers and Nira Johnson.

Before you listen to this episode please listen to the first part of the discussion on Episode #255.

Tiana Rogers is an aspiring digital designer and board-certified genetic counselor with direct patient care experience in prenatal and cancer genetics. She is currently a Content Consultant at My Gene Counsel where she investigates gene- and variant-specific updates and translates them into plain language for patients and caregivers, and a Genetic Counselor at Grey Genetics. She received her B.S. in Evolutionary Biology from Stony Brook University, and her M.S. from the Joan H. Marks Graduate Graduate Program in Human Genetics at Sarah Lawrence College (same class as our host Kira Dineen!). 

Nira Johnson is a genetic counselor turned graphic designer, who spent more than 10 years in cancer and prenatal genetics (mostly in industry) and about 5 years in graphic design. Now, her main goal is making accurate, patient- and provider-focused educational materials as well as science-focused art. She currently works as a graphic designer and consultant for Global Genes, and a marketing and development consultant for Clover Genetics. Nira also founded and owns her own freelance medical graphic design agency, Designs by NKJ! She received her AssociatesDegree in Graphic Design from Rasmussen University, and her M.S. in Genetic Counseling from Brandeis University. 

• How the field of genetic counseling and healthcare organizations can better address burnout and mental health challenges among practitioners and support well-being and career satisfaction 

• Pursuing alternative career paths outside of genetic counseling and how GC skills can transfer to other roles

• Creating awareness, especially for prospective and current GC students, within the genetic counseling community about the potential for burnout and the importance of mental health

• Advice for current genetic counselors who may be experiencing burnout or contemplating a career change

• Hopes for the future of genetic counseling and how it can continue to positively impact patients and practitioners alike

While recording this episode, both of our guests were adamant about continuing this important conversation surrounding burnout in genetic counseling, and they encourage anyone who is currently battling burnout or trying to prevent it to reach out to them via LinkedIn here: Tiana Rogers and Nira Johnson. Or email into [email protected] and we will forward your message to them directly. 

Stay tuned for the next new episode of DNA Today on October 6th. New episodes are released every Friday. In the meantime, you can binge over 255 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on X, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Over the next two episodes, we are discussing an important topic in genetic counseling that definitely is not talked about enough, burnout and transitioning to roles outside of the field. Joining us for this conversation are genetic counselors, Tiana Rogers and Nira Johnson.

Tiana Rogers is an aspiring digital designer and board-certified genetic counselor with direct patient care experience in prenatal and cancer genetics. She is currently a Content Consultant at My Gene Counsel where she investigates gene- and variant-specific updates and translates them into plain language for patients and caregivers, and a Genetic Counselor at Grey Genetics. She received her B.S. in Evolutionary Biology from Stony Brook University, and her M.S. from the Joan H. Marks Graduate Graduate Program in Human Genetics at Sarah Lawrence College (same class as our host Kira Dineen!). 

Nira Johnson is a genetic counselor turned graphic designer, who spent more than 10 years in cancer and prenatal genetics (mostly in industry) and about 5 years in graphic design. Now, her main goal is making accurate, patient- and provider-focused educational materials as well as science-focused art. She currently works as a graphic designer and consultant for Global Genes, and a marketing and development consultant for Clover Genetics. Nira also founded and owns her own freelance medical graphic design agency, Designs by NKJ! She received her AssociatesDegree in Graphic Design from Rasmussen University, and her M.S. in Genetic Counseling from Brandeis University. 

• Tiana’s and Nira’s journeys to becoming genetic counselors and the most rewarding aspects of their roles  

• Factors that can contribute to GC burnout

• Challenges our guests faced while working in clinic and non-direct patient setting and how did they impacted their mental health

• Strategies and resources to help cope with burnout and support to address mental health concerns in the GC field

• How the field of genetic counseling and healthcare organizations can better address burnout and mental health challenges among practitioners and support well-being and career satisfaction 

• Pursuing alternative career paths outside of genetic counseling and how GC skills can transfer to other roles

While recording this episode, both of our guests were adamant about continuing this important conversation surrounding burnout in genetic counseling, and they encourage anyone who is currently battling burnout or trying to prevent it to reach out to them via LinkedIn here: Tiana Rogers and Nira Johnson. Or email into [email protected] and we will forward your message to them directly.

Be sure to check out our social media channels for details to enter our giveaway of artwork from Nira! 

Stay tuned for the next new episode of DNA Today on September 29th, 2023 where we’ll be continuing our conversation with Tiana and Nira on genetic counseling burnout! New episodes are released every Friday. In the meantime, you can binge over 255 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

This episode was originally released on It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes Kira joins the podcast as a guest host especially for genetic topics, like in this episode. 

It Happened To Me is a rare disease and medical challenges podcast. The mission of the show is to create community as listeners confront the toughest challenges in life. All of us will experience health hardships. The real question is, how do we adapt? That’s the focus of It Happened To Me. The podcast explores how to overcome limitations and live a full and satisfying life. Drawing on their own health challenges, hosts Cathy Gildenhorn and Beth Glassman interview guests who share stories and research to help others succeed in the face of difficult health obstacles.

In this episode, parents Bonnie and Will Alms share their son's diagnostic odyssey with Bardet Biedl Syndrome. Everett’s condition is a rare genetic disorder.  People may suffer symptoms that include retinal degeneration, obesity, reduced kidney function, extra digits of the hands or feet, as well as many other manifestations. You can learn more about Everett in this article. 

We are sharing this episode in preparation for Bardet Biedl Syndrome awareness day on September 24th, 2023! Join us in sharing this episode on social media to raise awareness. 

• Basics of Bardet Biedl Syndrome (BBS)
• What their OB/GYN discovered 
• Meeting with prenatal genetic counselor
• Testing during pregnancy and after birth
• Sequence of tests leading to BBS diagnosis
• When and how they learned about the condition
• Coping with the diagnosis news
• Timing of Everett's BBS diagnosis
• Outlook for quality and length of Everett's life
• Everett's current quality of life and symptoms
• Experience with seizures, onset, and medication
• Vision loss, adaptation, and legal blindness
• Dealing with obesity or insatiable hunger
• Participation, goal and outcome of the clinical trial
• Surgeries for extra fingers and toes
• Everett's current status as a teenager
• Additional symptoms developed since childhood
• Remaining BBS symptoms not experienced by Everett
• BBS community, connections, and resources
• Advice for parents of undiagnosed diseases

This was the first part of the conversation, for the second half check out Episode 12 of It Happened To Me on Apple Podcasts, Spotify, or any other podcast player by searching, “It Happened To Me”. Learn more about the show on their website. 

Stay tuned for the next new episode of DNA Today! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

In this episode we are discussing inborn errors of immunity, with a particular focus on chronic granulomatous disease (CGD). Joining us for this episode is rare disease advocate, Felicia Morton, and genetic counselor, Torry Howell. 

Felicia Morton, is the Founder and Executive Director of the CGD Association of America. Felicia has been a well-known advocate for the CGD community for more than a decade armed with her family’s personal experience. 

Torry Howell, is a clinical genomic liaison at Blueprint Genetics. She received her Master of Science in Genetic Counseling from the University of Texas and MD Anderson Cancer Center in Houston, Texas.

• Inborn errors of immunity (IEIs) and types of conditions that fall under this umbrella term
• Genetic testing for IEIs and how earlier diagnosis can impact a patient’s treatment decisions
• Chronic granulomatous disease (CGD)
• Felicia’s personal experience as a carrier of CGD and parent of a son with CGD
• Stem cell treatment for CGD
• The importance of collaboration between patients, caregivers, advocacy groups, and medical experts in improving the lives of those affected by CGD and IEIs

Important links and resources mentioned during the episode:

• NIH’s Division of Allergy, Immunology, and Transplantation
• CGD Association of America
• Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee 

Stay tuned for the next new episode of DNA Today on September 15th, 2023! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

This episode was originally recorded for It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes Kira joins this podcast as a guest host especially when there will be genetic topics, like in this episode. 

This episode was extra special as DNA Today’s Communications Lead Corinne Merlino was the guest! Corinne was also a guest on Episodes 245 and 246 where we answered listener’s questions about the genetic counseling graduate school application process. This was recorded in NBC Universal’s Stamford Studios so we recommend watching it on YouTube! 

Corinne was born with Pierre Robin Syndrome, a rare congenital birth defect that affects craniofacial development. Navigating life as a patient from a young age sparked her passion for science, medicine, and advocacy, and ultimately inspired her to pursue a career in genetic counseling.

Corinne currently works as a clinical research coordinator for -The Palliative and Advanced Illness Research- or (PAIR) Center- at The University of Pennsylvania. There she supports multiple studies focused on improving the effectiveness and efficiency of specialty palliative care services for seriously ill patients. 

In 2020, Corinne received her B.S. in Biology and Healthcare Ethics from Saint Joseph's University. Corinne is currently a graduate student in genetic counseling at the University of Pennsylvania.

During the episode we mentioned Philly Phaces and the book and film Wonder. 

Stay tuned for the next new episode of DNA Today on September 8th where we will discuss inborn errors of immunity with a Blueprint Genetics clinical genomic liaison, Torry Howell and the Founder and Executive Director of the CGD Association of America, Felicia Morton. 

New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. 

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. Episodes in the last three years have also been recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our Communications Lead is Corinne Merlino. Our Video Lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer is Ashlyn Enokian.

Currently, an overwhelming number of DNA samples used for research are from people of European ancestry, making many populations from across the globe underrepresented in genomics research. (NHGRI) In this episode, we explore an important issue in healthcare, diversifying genetic research, with two experts from 23andMe

Dr. Ruth Tennen is a product scientist at 23andMe. In this role Dr. Tennen develops new genetic health reports with the goal of helping 23andMe customers access, understand, and benefit from the human genome. Before joining 23andMe, she served as a science policy fellow at the State Department, helping promote science education and entrepreneurship in Africa, and as a lecturer at Stanford, teaching courses on experimental design, bioethics, and cancer. Ruth loves learning about and talking about science, and throughout her career, she has worked to inspire budding scientists by mentoring and teaching students at local schools, hospitals, and museums. Ruth received her bachelor's degree in molecular biology from Princeton and her Ph.D. in cancer biology from Stanford.

Dr. Anjali Shastri is a Senior Program Manager at 23andMe. A research scientist by training, she manages programs that increase access to genetic testing, improve representation in genomic studies, and further impactful genetics research (like 23andMe's 1 million-participant COVID-19 Study), so that more people can benefit from 23andMe's health and ancestry products, services, and research. Previously she worked at the U.S. Department of State, Department of Health and Human Services, and the National Academy of Sciences, advancing science-based policies and coordinating global health projects. Anjali received her PhD in Immunology from Stanford University where she was a Diversifying Academia and Recruiting Excellence fellow and National Science Foundation graduate research fellow. Throughout her training and career, Dr. Shastri has led efforts to improve representation and health outcomes for all people.

• Changes in recent years with the diversity in genetic research
• The importance of increasing the amount of diversity in genetic research and the impact it can have on improving healthcare outcomes 
• Roles that genetic testing and personalized medicine can play in addressing health disparities among different populations
• 23andMe’s collaboration with Morehouse School of Medicine, the first such collaboration between a genetic testing company and a Historically Black Medical College (HBMC), and how it aims to improve diversity in genetic research specifically for sickle cell disease
• Challenges faced in expanding diversity in genetic research, and how is 23andMe working to overcome them
• Goals of the African American Sequencing Project
• Information included in 23andMe’s sickle cell screening report and challenges and considerations when it comes to providing genetic information related to sickle cell disease when it’s direct-to-consumer 
• 23andMe’s goals and initiatives for diversifying genetic research and improving healthcare outcomes for all populations

Links to studies, websites, and press-releases mentioned in this episode:

• Press release: Morehouse School of Medicine, Sickle Cell Foundation of Georgia and 23andMe Launch Sickle Cell Carrier Status Awareness Program 

• The U.S. Public Health Service Syphilis Study at Tuskegee
• Low LDL and PSK9 study
• Georgia Sickle Cell Disease Foundation

DNA Today Episodes related to diversifying genetic research and mentioned in episode:

• #214 2022 Genetics Wrapped with Eric Green
• #117 Dr. Janina Jeff on African Genomes
• #34 Henrietta Lacks (HeLa cells)

Stay tuned for the next new episode of DNA Today on September 1st, 2023 where we’ll be sharing an episode of It Happened to Me podcast featuring our Communications Lead Corinne Merlino, who shares her experience of having Pierre Robin Syndrome, just in time to in honor of the condition’s awareness day! 

New episodes of DNA Today are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We are celebrating the 250th episode of DNA Today and the 10 year anniversary of Orphan Black premiere with Madeline Ashby who was a writer for Orphan Black: The Next Chapter. In our conversation we will dive into some of the genetic concepts explored in the show. Warning there will be spoilers for both the TV show and the podcast!!!

Madeline Ashby (she/her) is an author among many other creative roles and talents. She graduated from the first cohort of the M.Des. in Strategic Foresight and Innovation programme at OCADU in 2011. It was her second Masters degree. (Her first, in Interdisciplinary Studies, focused on cyborg theory, fan culture, and Japanese animation!) Since 2011, she has been a freelance consulting futurist specializing in scenario development and science fiction prototypes. Her work has appeared in BoingBoing, Slate, MIT Technology Review, WIRED, The Atlantic, and many other notable places. She penned a trilogy of novels starting with vN: The First Machine Dynasty along with other books. Check out her IMDb profile for more info.

She is also a writer on our host Kira Dineen’s favorite science fiction podcast of all time: Orphan Black: The Next Chapter. Orphan Black is a thought-provoking sci-fi thriller that explores a world of clones. The main character Sarah runs into someone who looks like her twin, and Sarah figures out she is actually her clone. The story takes off from there of Sarah discovering she is just one of many genetically identical clones, each with their own unique personality and skills. They all navigate a treacherous web of deceit, corporate intrigue, and scientific experimentation. The show ran for 5 years between 2013-2017 before the podcast spinoff was announced. 

• The motivation behind continuing the Orphan Black story in podcast format
• How the show explores the issue of genetic privacy and the downstream effects on relatives of the clones and real-world considerations in genetic data sharing and data privacy
• How plausible the idea of bio weapons and designing viruses to attack specific individuals based on SNPs, touched on in the show, is in reality and the ethical implications
• Ethical violations explored in the podcast including uninformed, forced vaccination, and how they parallel real-world bioethical concerns
• Storing genetic data in the podcast and tv show versus the real-world

We talked a lot about science fiction on this episode, but we wanted to share some exciting developments in the real-world of genetic research that could allow same-sex couples to share biological children someday:

TIME: Get Ready for Embryos From Two Men or Two Women

NPR: Startup aims to make lab-grown human eggs, transforming options for creating families 

Stay tuned for the next new episode of DNA Today on August 25th, 2023! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode we are joined by two genetic counselors to explore the experience of being a male in our field. 

John Zimmerman, MS, CGC, is a certified genetic counselor at UT Southwestern Medical Center. John completed his genetic counseling training at the University of Minnesota in 2017 and has since worked as a clinical genetic counselor with the UT Southwestern Cancer Genetics Program. Recently, he has taken on the additional role of Director of Fieldwork for the UT Southwestern Genetic Counseling Program.  John is an active member of the National Society of Genetic Counselors, serving on the Access and Service Delivery Committee. He is also the current president of the Texas Society of Genetic Counselors. 

Daniel Riconda, MS, CGC, (he/him) is a certified genetic counselor and Associate Professor at Baylor College of Medicine (BCM) in Houston, Texas who received his M.S. in Genetic Counseling from Sarah Lawrence College in 1988. He obtained certification by the American Board of Medical Genetics in 1990 and became certified as a founding member of the American Board of Genetic Counseling in 1993. He is also a certified Resolve Through Sharing (RTS) bereavement counselor. In 2016 he joined the Department of Molecular and Human Genetics at BCM and School of Health Professions to lead the coordination, design, and development of a Master of Science Genetic Counseling program and is now serving as the Program Director. He has been serving as a project manager of Consultagene, an online tele-genetic counseling and educational resource at BCM, since 2016. He currently sees patients for cancer genetic counseling in the Adult Genetics Clinic at BCM. He has served as an At-Large Board member for the NSGC BOD (2015-2016) and has previously served as a member of that organization’s ethics committee, public affairs committee and co-chair of their subcommittee on licensure. He served a 5 year term (2002-2006) as an (elected) board member of the American Board of Genetic Counseling (and as chair of the Accreditation committee for 3 years), served as the program services committee chairperson for the Florida March of Dimes, and has served on both the Florida & Texas public affairs committees for the March of Dimes. In 2010, he was selected as one of nine-videotaped “Master Genetic Counselor’s” for training videos that were distributed to all of the Genetic Counseling training programs across North America. He has been actively involved in genetics education and licensure activities at the local, state and national level. He is currently an invited member of the ASHG Membership Engagement Committee, is a member of the ACGC Standards Committee, and served on the Association of Genetic Counseling Program Directors (AGCPD) DEI Committee. In 2022 he received a Norton-Rose-Fulbright Faculty Excellence Award for Educational Leadership. Prior to joining Baylor, he developed and coordinated prenatal, pediatric, specialty clinics and oncology related genetic counseling services at Winnie Palmer and Arnold Palmer Hospitals in Orlando, Florida for more than 2 decades.

• Navigating a profession that is predominantly female as male genetic counselors
• Unique perspectives and contributions that male genetic counselors bring to the field, and how it benefits patients and the overall genetic counseling profession
• Challenges and stereotypes our guests have faced as male genetic counselors and how they’ve addressed or overcome them

• How the percentage of male genetic counselors has changed over the years
• Steps that can be taken to encourage more men to enter the genetic counseling field and to support their growth and success once they are part of the profession

• Advice for men considering a career in genetic counseling or those who have recently entered the profession
• How male GCs are impacting the average salary
• How our guests see the role of male genetic counselors evolving and contributing to the advancement of the genetic counseling field

Links to resources and references we mentioned in this episode:

• Minority Genetics Professional Network (MGPN)
• NSGC's Professional Status Survey
• Chen A, Veach PM, Schoonveld C, Zierhut H. Seekers, Finders, Settlers, and Stumblers: Identifying the Career Paths of Males in the Genetic Counseling Profession. J Genet Couns. 2017 Oct;26(5):948-962. doi: 10.1007/s10897-017-0071-1. Epub 2017 Mar 14. PMID: 28289854.
• Kopesky JW, Veach PM, Lian F, Leroy BS. Where are the males? Gender differences in undergraduates' interest in and perceptions of the genetic counseling profession. J Genet Couns. 2011 Aug;20(4):341-54. doi: 10.1007/s10897-011-9365-x. Epub 2011 Apr 20. PMID: 21505919.
• Barnett, C., Myers, M. F., Spaeth, C. G., Pilipenko, V., & Bucheit, L. A. (2020). The gendered pay gap in genetic counseling. Journal of genetic counseling, 29(2), 182–191. https://doi.org/10.1002/jgc4.1236.

Stay tuned for the next new episode of DNA Today on August 18th, 2023 for our 250th episode featuring a writer from Kira’ favorite tv show/podcast! New episodes are released every Friday. In the meantime, you can binge 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

In this episode we are learning about Ornithine transcarbamylase (OTC) deficiency, an X-linked genetic disorder that prevents the breakdown and excretion of ammonia. 

When ammonia builds up in the body, it can rise to toxic levels where it affects the central nervous system. This allows ammonia to accumulate in the bloodstream, rising to toxic levels where it affects the central nervous system. OTC is the most common of the urea cycle disorders.

We are joined by three OTC experts with professional and lived experience! Dr. Aimée Dudley is a Senior Investigator at the Pacific Northwest Research Institute (PNRI). Her laboratory performs genetic research that is used to aid variant interpretation. Dr. Andrea Gropman is the Principle Investigator of the Urea Cycle Rare Disease Consortium (UCDC) and the Division Chief of Neurodevelopmental Pediatrics and Neurogenetics at Children’s National Hospital. Tresa Warner provides her personal experience and shares her insight as the mother of a child with OTC deficiency. She also serves as the president of the National Urea Cycle Disorders Foundation. 

Aimée Dudley, PhD, is a Senior Investigator and the Director of Educational Outreach at PNRI. She earned her BS in biochemistry and molecular biology from the University of Massachusetts at Amherst and her PhD in genetics from Harvard Medical School. Dr. Dudley was an Alexander Hollaender Distinguished Postdoctoral Fellow in Dr. George Church’s laboratory at Harvard Medical School. In addition to her roles at PNRI, Dr. Dudley is a scientific advisor to FenoLogica Biosciences, a scientific instrumentation company founded based on technology developed in her lab. She serves as an Associate Editor at PLoS Genetics. Dr. Dudley also co-chairs the Washington Research Foundation’s Postdoctoral Fellowship Selection Committee. As PNRI’s Director of Educational Outreach, she partners with community groups to bring high school and undergraduate students from underrepresented communities to PNRI to explore science as a career. She also mentors graduate students through her affiliate appointment in the University of Washington’s Department of Genome Sciences, and as a faculty member in the Molecular Engineering Graduate Program and the Molecular and Cellular Biology Graduate Program.

Andrea Gropman, M.D., FAAP, FACMG, FANA, is Chief of Neurogenetics and Neurodevelopmental Pediatrics at Children’s National Hospital and a Professor of Pediatrics, Neurology, Genomics and Personalized Medicine at George Washington University. Dr. Gropman is the Principal Investigator of the Urea Cycle Disorders Consortium (UCDC) and serves leadership roles on the Rare Disease Clinical Research Network and in genetic, metabolic and neurology societies. She has published over 200 articles and reviews and contributed chapters to classic textbooks in genetics and neurology. Dr. Gropman is one of the associate editors of the classic textbook, Swaiman’s Pediatric Neurology and co-author of the textbook, X & Y Chromosomal Variations. She received her M.D. from the University of Massachusetts School of Medicine, completed a residency in Pediatrics at Johns Hopkins Hospital in Baltimore, MD and subsequent fellowships in neurology/child neurology at George Washington University and Children’s National, Washington, D.C., clinical and biochemical genetics at the National Institutes of Health, and a mini fellowship in neuroimaging and magnetic resonance spectroscopy at the Huntington Medical Research Institute in Pasadena, CA. She is board certified in neurology/child neurology, genetics, biochemical genetics and neurodevelopmental disabilities.

Tresa Warner is a parent of a child living with OTC and the President of the Board of Directors of the National Urea Cycle Disorders Foundation, a non-profit organization dedicated to the identification, treatment, and cure of urea cycle disorders. The foundation was formed in 1988 by a handful of parents whose children were affected by urea cycle disorders and has since become a nationally recognized resource of information and education for families and healthcare professionals.

• Urea Cycle disorders, commonalities and symptoms
• OTC deficiency overview
• Diagnosis and treatment of OTC deficiency
• OTC deficiency and newborn screening panels
• Variants of uncertain significance in the OTC gene
• New potential treatments and cures of OTC deficiency
• Challenges faced by people with OTC deficiency and their families and actions that people with OTC deficiency and their families can do to cope with the challenges of the disease
• The role of the Urea Cycle Rare Disease Consortium in research and the National Urea Cycle Disorders Foundation in supporting people and families with OTC deficiency

Links we mention in the episode:

Article: The functional impact of 1,570 individual amino acid substitutions in human OTC

Press release: Novel Genetic Screening Tool Offers Hope for Babies Born With Life-Threatening Metabolic Disorder

Website: The Dudley Lab

Website: Urea Cycle Disorders Consortium

Website: National Urea Cycle Disorders Foundation

Stay tuned for the next new episode of DNA Today on August 11th, 2023 where we’ll be joined by Dan Riconda and John Zimmerman to discuss men in genetic counseling in the third installment of our GC history series! New episodes are released every Friday. In the meantime, you can binge over 245 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In lieu of this episode, I want to provide you with other DNA Today episodes about DMD. 

In Episode #156 I interview Rich Horgan. He opens up about his brother’s experience living with DMD and how it inspired him to start Cure Rare Diseases, which is an organization that focuses on developing personalized treatments for rare diseases. 

In Episode #202 I interview two experts about DMD. Genetic counselor Ann Martin who serves as the VP of Community Research and Genetic Services at Parent Project Muscular Dystrophy. Our other guest is world-renowned geneticist Dr. Madhuri Hegde from Revvity (formerly PerkinElmer Genomics). In this episode we focus on the genetics of DMD and the treatments. 

Both episodes are linked for you in the show notes. Enjoy!

PART TWO, stream episode #245 before this episode! 

Some of our most popular episodes over the years of DNA Today are those that provide insight into the genetic counseling graduate program application process. So much has changed since we recorded those episodes back in 2018-2022 (many programs have removed the GRE requirement, interviews are virtual, etc.) these episodes include #87 #97 #101 #193 and #194. 

That’s why we are revisiting these topics. We are joined by two newly matched genetic counseling students who are starting their graduate programs this fall, Maya Patel and Corinne Merlino! Last week we shared Part 1 of this episode where we discussed mentorship, obtaining letters of recommendation, taking gap years, and more! Definitely check it out before you listen to this episode! 

Maya Patel will be a student in Thomas Jefferson University’s program. She earned her degree in diagnostic genetics at The University of Connecticut (which is how we connected, I graduated from the same program 6 years ago). Maya is a first-time applicant and is going right from undergrad into her GC program, so she has lots of insight to offer about navigating the application process during a busy senior year.

Corinne Merlino’s name is probably familiar to you as she is our Communications Lead! Corinne writes the blog posts for each episode and leads our social media team. Corinne is also a Clinical Research Coordinator at The Palliative and Advanced Illness Research (PAIR) Center at The University of Pennsylvania where she has worked for 3 years. She is continuing her career at Penn by joining their genetic counseling class this fall! Corinne was a second-time applicant this cycle and after not matching and taking multiple gap years, she can speak to how to spend that time in an intentional and meaningful way.

Congratulations to both of our guests on matching, this is especially exciting for our host, Kira Dineen, who had the privilege of mentoring both Maya and Corinne through their application process! Become a mentee of Kira’s here.

Special shoutout to our listeners who submitted questions for our guests to answer, Mahfuz, Grace, Anna, Elizabeth, Crystal, Sophie, Kelci, Riley, Christina, and Aciana.

• Crafting a great personal statement
• Networking 
• Applying multiple times
• Tips for taking care of yourself 
• Helpful advice our guests were given and advice they’d like to share with future applicants 

During the show, Corinne and Maya talked a lot about how mentorship was a vital tool during their application cycle. One of their mentors was (and continues to be) our host Kira Dineen. If you would like to have this mentorship, join our Patreon here! 

Keep up with our guests during their grad school journeys by following Corinne on Twitter and LinkedIn and Maya on LinkedIn. Both Corinne and Maya would be happy to answer additional questions about their application processes, just send them a DM!

You can also check out this αrticle where Maya talks about her experience as a student in the Diagnostic Genetics Program at UConn, and stay tuned this Fall when we’ll be sharing Corinne’s interview on the It Happened To Me Podcast!

Stay tuned for the next new episode of DNA Today on July 28th, 2023 where we’ll be joined by Dr. Susan Apkon & Melissa Gibbons for a conversation about Duchenne Muscular Dystrophy! New episodes are released every Friday. In the meantime, you can binge over 245 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. 

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Some of our most popular episodes over the years of DNA Today are those that provide insight into the genetic counseling graduate program application process. So much has changed since we recorded those episodes back in 2018-2022 (many programs have removed the GRE requirement, interviews are virtual, etc.) these episodes include #87 #97 #101 #193 and #194. 

That’s why we are revisiting these topics. We are joined by two newly matched genetic counseling students who are starting their graduate programs this fall, Maya Patel and Corinne Merlino!

Maya Patel will be a student in Thomas Jefferson University’s program. She earned her degree in diagnostic genetics at The University of Connecticut (which is how we connected, I graduated from the same program 6 years ago). Maya is a first-time applicant and is going right from undergrad into her GC program, so she has lots of insight to offer about navigating the application process during a busy senior year.

Corinne Merlino’s name is probably familiar to you as she is our Communications Lead! Corinne writes the blog posts for each episode and leads our social media team. Corinne is also a Clinical Research Coordinator at The Palliative and Advanced Illness Research (PAIR) Center at The University of Pennsylvania where she has worked for 3 years. She is continuing her career at Penn by joining their genetic counseling class this fall! Corinne was a second-time applicant this cycle and after not matching and taking multiple gap years, she can speak to how to spend that time in an intentional and meaningful way.

Congratulations to both of our guests on matching, this is especially exciting for our host, Kira Dineen, who had the privilege of mentoring both Maya and Corinne through their application process! Become a mentee of Kira’s here.

Special shoutout to our listeners who submitted questions for our guests to answer, Mahfuz, Grace, Anna, Elizabeth, Crystal, Sophie, Kelci, Riley, Christina, and Aciana.

• What inspired our guests to become genetic counselors
• What types of people/characteristics programs look for in their applicants
• Criteria to use when narrowing down programs to apply to
• The importance of mentorship during this process
• Applying while in undergrad versus taking gap years
• Approaching recommenders to write letters on your behalf
• Academic components of an application
• Obtaining GC experience (shadowing, informational interviews)

The second part of our conversation will focus on crafting your personal statement(s). This part 2 will be dropped on the podcast feed next Friday on July 21st. Can’t wait to listen? Head over to our YouTube channel where both parts were released together in one video (so fast forward to about 34 minutes to pick up where you left off). 

During the show, Corinne and Maya talked a lot about how mentorship was a vital tool during their application cycle. One of their mentors was (and continues to be) our host Kira Dineen. If you would like to have this mentorship, join our Patreon here! 

Keep up with our guests during their grad school journeys by following Corinne on Twitter and LinkedIn and Maya on LinkedIn. Both Corinne and Maya would be happy to answer additional questions about their application processes, just send them a DM!

You can also check out this αrticle where Maya talks about her experience as a student in the Diagnostic Genetics Program at UConn, and stay tuned this Fall when we’ll be sharing Corinne’s interview on the It Happened To Me Podcast!

Stay tuned for the next new episode of DNA Today on July 21st, 2023 where we’ll be sharing the second installment of this series on genetic counseling program applications! New episodes are released every Friday. In the meantime, you can binge over 245 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. 

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Step into our time machine as we transport you back to the early heydays of genetic counseling (aka the 70s) with our esteemed guest, Virginia Corson. Virginia is a veteran genetic counselor who has weathered the changing tides of this field over the last 50 years, and she's here to share her incredible journey with us. Virginia has spent the vast majority of her career as a prenatal genetic counselor at Johns Hopkins School of Medicine. She has written countless publications with original research, case reports, book chapters, and professional society statements. She earned her Master’s of Science through the OG genetic counseling program, Sarah Lawrence College (which I also graduated from a few years ago).

Get ready to gain an insightful perspective into the pioneering days of the profession, the challenges of a nascent field, and how Virginia carved her niche in a time devoid of the technological conveniences we take for granted today.

We'll be journeying through Virginia's academic odyssey at Sarah Lawrence College's one-year program, packed with clinical rotations and field work. Experience the nascent use of ultrasound in prenatal care and how the advent of molecular testing revolutionized prenatal testing, despite the rather limited scope of genetic counseling during the late 1970s. Virginia’s wealth of knowledge is sure to enlighten us all about the critical importance of the field's continued evolution and development.

In the last leg of our conversation, Virginia uncovers the intriguing aspects of her various clinical rotations and field work, discussing the glaring absence of molecular genetics and cancer genetics courses at the time. She stresses the significance of lifelong learning for genetic counselors and provides a sneak peek into a typical day in her early career. We'll also delve into the evolution of genetic counseling sessions, the ethical and legal considerations during the 1970s, and even a surprising moment when Virginia found herself on the front cover of the Wall Street Journal. So, buckle up for this enlightening chat with Virginia Corson, and get ready to unravel the captivating world of genetic counseling!

Episode Chapters 

(0:00:02) - Exploring Genetic Counseling in the 1970s (12 Minutes)

Virginia Corson, a seasoned genetic counselor with decades of experience in the field, shares her journey of learning about genetic counseling in the 1970s, a time when the field was still in its infancy. We discuss the landscape of the field at the time, with very few places hiring genetic counselors and no computers or emails to make job search easier. Virginia recounts how she sent out 40 individual cover letters to potential employers and eventually got a job offer from Johns Hopkins. We explore the challenges of entering a new field and the changes the profession has gone through over the last 50 years.

(0:11:37) - Prenatal Testing and Genetic Counseling Evolution (6 Minutes)

Virginia Corson shares her experience of attending Sarah Lawrence College's one-year program, which was packed with clinical rotations, field work, and electives. We also explore the early uses of ultrasound in prenatal care and how molecular testing has allowed for more accurate prenatal testing. In the late 1970s, genetic counseling was limited in terms of testing and topics available.

(0:17:39) - Genetic Counseling in the Past (8 Minutes)

Virginia Corson talks about the various clinical rotations and field work she completed as part of the one-year program at Sarah Lawrence College. She had the opportunity to visit Mount Sinai Hospital, Albert Einstein Hospital, and Creedmoor Institute, where she interviewed people at-risk for Huntington's Disease. Virginia also discusses the lack of molecular genetics and cancer genetics courses at the time and the importance of continuing education for genetic counselors. She shares what a typical day was like for her, which included taking family histories, discussing testing options, and navigating the four-week waiting period for amniocentesis results.

(0:25:50) - Evolution of Genetic Counseling (8 Minutes)

We discuss the changes in genetic counseling sessions over the years, from the early 1970s when carrier screening was much simpler to the present day, where there are hundreds of tests offered. Virginia Corson shares the story of her 15 minutes of fame when she was featured on the front cover of the Wall Street Journal in the late 1980s. The journalist wanted to make the article more personal and interviewed her, and how it ended up being a front page article. We also explore the ethical and legal considerations in the 1970s, such as the debate around whether genetic counselors could counsel independently without a doctor present, as well as the establishment of the National Society of Genetic Counselors. Finally, we talk about the exams Virginia and the other geneticists took, which was the same core exam and then a separate genetic counseling exam.

This episode is part of our Genetic Counseling History series backed by the National Society of Genetic Counselors’ Late Career Special Interest Group. Be sure to check out Episode 234 and Episode 235 which explore the first few NSGC conferences and the formation of the American Board of Genetic Counselors. 

Stay tuned for the next new episode of DNA Today on July 14th! New episodes are released every Friday. In the meantime, you can binge over 240 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We are closing out Pride Month with a recent installment of the PhenoTips Speaker Series. DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. This episode is the 24th installment of the PhenoTips’ Speaker Series, “Navigating Barriers in LGBTQIA+ Genetic Care”. 

A 2018 Harvard study found that nearly 1/6th of LGBTQIA+ adults have experienced discrimination in a healthcare setting, while 1/5th have avoided seeking medical care out of fear of discrimination. Efforts have been made in recent years to improve the cultural competency of genetic professionals, however, barriers to compassionate care for LGBTQIA+ individuals persist. In an environment of changing healthcare legislation and increased hostility towards the LBGTQIA+ community, creating a safe space for patients is more challenging than ever.

Panelists:

Dr. Jehannine Austin (they/them) Executive Director of BC Mental Health, Professor in Psychiatry & Medical Genetics at the University of British Columbia 

Andy Cantor, CGC (she/they/he) Senior Genetic Counselor & Certified Trainer on Trans and Non-Binary Competency at Labcorp 

Josephine Giblin, CGC (she/her) Genetic Counsellor at NHS Bristol

Katie Gallagher, CGC (she/her) Assistant Program Director at Sarah Lawrence College

In this episode’s panel discussion moderated by Kira Dineen, our panel of international experts and advocates discusses:

• Protecting patients during times of unprecedented legislation
• Creating psychologically safe and inclusive environments
• Supporting access to equitable care
• Representation in family history collection
• Resources and best practices to support LBGTQIA+ colleagues and patients

Last year we also celebrated pride month with PhenoTips. In Episode #189 we interviewed two experts from PhenoTips, Orion Buske and Erica Peacock about building inclusive pedigrees. We also released last year’s PhenoTips Speaker Series Pride installment on Episode #190, which focuses on providing gender affirming care, specifically in the genetic counseling space. As a queer member of the LGBTQIA+ community, our host Kira Dineen is excited to share all these episodes, including this week’s! 

These webinars are sponsored by PhenoTips. During these live events we interview leaders in the field of genetics and moderate questions live from the audience. Check out upcoming installments by heading over to PhenoTips.com where you can also stream all the webinars from the last three years. 

Stay tuned for the next new episode of DNA Today on July 7th where we continue our History of Genetic Counseling Series, this time joined by seasoned genetic counselor Ginny Corson! New episodes are released every Friday. In the meantime, you can binge over 240 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In 2020, a direct-to-consumer DNA test revealed that our guest Richard Wenzel's father was not his genetic father. Moreover, evidence indicates that his conception resulted from a sexual assault of his mother and that his pediatrician (who was also his mother's obstetrician) helped conceal this crime; unfortunately, all involved individuals are deceased. Since that troubling discovery, Richard has dedicated his efforts towards increasing education and awareness among medical professionals about the harms of false genetic narratives, identifying opportunities to improve the care provided to children/adults incurring a false narrative, and urging for research. 

Richard Wenzel, Pharm.D., CPPS, is an accomplished clinician, researcher, educator, lecturer, and mentor in the profession of pharmacy, whose expertise includes hospital practices, headache disorders, and patient safety, as well as the evolving realm of direct-to-consumer genetic testing. He has authored or co-author approximately 50 peer-reviewed publications in medical and pharmacy journals including Phase III and post hoc medication research, systematic literature reviews, clinical narratives, and opinion piece articles.He has also given more than 100 presentations at national, state, and local-level medical professionals’ (pharmacist, physician, physician assistant, nursing) meetings as well as lectures at U.S. and international Colleges of Pharmacy. Richard is a recipient of the American Pharmacists Association’s "One-to-One Patient Counseling Award" and is a two-time nominee for the American Association of Colleges of Pharmacy "Master Preceptor" award and a university’s "Preceptor of the Year" recipient, having successfully provided clinical rotation site education to more than 600 pharmacy students!

On This Episode We Discuss:

• Richard’s personal journey of discovering his misattributed paternity

• How this discovery has affected his perception of his relationship with his mother and childhood experiences
• Wrestling with the discovery of misattributed paternity when the parents are deceased

• Guidelines that healthcare providers follow regarding the disclosure of misattributed parentage

• Benefits and harms that need to be considered when deciding whether to disclose misattributed parentage
• How the discovery of misattributed parentage can impact individuals, particularly children, and their sense of identity

• Available support and resources for individuals who have discovered misattributed parentage, and what more needs to be done to assist them

• Advice for others who are in the midst of a not-parent-expected discovery and for healthcare providers on the other side of this

Richard Wenzel’s Resources

• • American Medical Association Code on Ethics of Collecting Family History
  • American Academy of Pediatrics’ Article on the Pediatrician’s Role on Patient and Family Centered Care 
  • American Academy of Pediatrics “Value of Family Medical History and adoption as a barrier to accurate history”
  • Jodi Girard’s Narrative & Kara Rubenstein Narrative 
  • American Society of Human Genetics Position Statement and Article
  • American Society for Reproductive Medicine Position Statement
  • American College of Medical Genetics and Genomics Position Statement 
  • Organizations include donordeceived.org and womenagainstpaternityfraud.org

• Shepard, A., Diamond, D., Willard, L., Staples, J., Martin, K., & Witherspoon, N. (2022). Discovering Misattributed Paternity After DNA Testing and its Impact on Psychological Well-Being and Identity Formation. American Journal of Qualitative Research, 6(3), 189-211. https://doi.org/10.29333/ajqr/12611

• Avni C, Sinai D, Blasbalg U, Toren P. Discovering your presumed father is not your biological father: Psychiatric ramifications of independently uncovered non-paternity events resulting from direct-to-consumer DNA testing. Psychiatry Res 2023;323:115142. 
• Lawton B L, Pyott L C, Deyerin K R,  Foeman A K. Experiences of Misattributed Parentage Communities: Impacts of Discovering New Familial Kinships. Journal of Family History 2023: epub ahead of print; doi.org/10.1177/03631990231156176.  
• Grethel, M., Lewis, J., Freeman, R., & Stone, C. (2022). Discovery of unexpected paternity after direct-to-consumer DNA testing and its impact on identity. Family Relations, 1– 17. https://doi.org/10.1111/fare.12752
• Klugman-Rabb, Jodi, "A Qualitative Study on the Effect of Misattributed Parentage Experiences" (2023). Collected Faculty and Staff Scholarship. 354.
  https://scholar.dominican.edu/all-faculty/354
•  Family Secrets: Exploring unexpected paternity through direct-to-consumer DNA ancestry tests.  Gina Daniel, Masters Thesis, https://millersville.tind.io/record/6411/files/Gina%20Daniel.pdf
• Semikhodskii A, Makarova T, Sutyagina D. Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case. Eur J Med Genet. 2023 Jun 3;66(8):104799. doi: 10.1016/j.ejmg.2023.104799
• Sheets KM, Baird ML, Heinig J, Davis D, Sabatini M, Starr DB. A case of chimerism-induced paternity confusion: what ART practitioners can do to prevent future calamity for families. J Assist Reprod Genet. 2018 Feb;35(2):345-352. doi: 10.1007/s10815-017-1064-6.
• Li D, Liao C. Incidental discovery of nonpaternity during prenatal testing of genetic disease. Fetal Diagn Ther 2008;24:39-41.  “that pleases those who do not wish to disclose [MP] yet accurately states the laboratory’s results for legal purposes”

We close out Pride month on June 30th with our next new episode “Navigating Barriers in LGBTQIA+ Genetic Care”, this is an episode drop from the PhenoTips Speaker Series, also hosted by Kira Dineen. New episodes are released every Friday. In the meantime, you can binge over 240 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our

With Father’s Day coming up this Sunday, it’s only fitting that this week’s guest is famous for coining the phrase, “You are (or are not) the father!” We sat down with the one and only Maury Povich live in NBC’s Stamford Studios (where Maury has his own show on the network) for a discussion about paternity testing!

Maury is a household name and an icon in the world of talk shows. For over 30 years, he has been bringing the truth to light and resolving some of the most challenging and sensitive issues on national television with the Maury Show. He has become known for his expertise in paternity testing, helping people across the United States determine the truth about their biological relationships. He is a trailblazer in his field, and his show has become synonymous with the catchphrase, "You are the father!" 

• What motivated Maury pursue hosting a talk show featuring paternity testing

• The origin of the line, “You are (not) the father” 

• The emotional impact of revealing paternity results to the participants, and what it's like to witness these highly charged moments

• What motivates people to come on the show to have paternity testing performed publicly, rather than seeking private testing
• The perspective of the pregnant person seeking paternity testing versus the perspective of the alleged father, and the challenges this presents when performing the tests

• Psychological factors that may be at play when people seek paternity testing, and how these can impact the outcomes of the testing?
• Stories that stand out to Maury in his decades of providing paternity tests

• The frequency of maternity tests and the circumstances on the show that lead to questionable maternity

• Maury’s advice for individuals who are considering seeking paternity testing, either privately or through a public platform like his show

You can keep up with The Maury Show on Twitter, Facebook, Instagram, YouTube, and Snapchat! You will also see Kira featured on the channels commenting on genetics behind paternity testing including commentary on a few virtual segments of The Maury Show. 

Stay tuned for the next new episode of DNA Today on June 23rd, 2023! New episodes are released every Friday. In the meantime, you can binge over 240 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Joining us for this episode is Sneha Dave, Founder and Executive Director of Generation Patient, an organization that facilitates events, online programs, and advocacy initiatives for young adults living with chronic and rare conditions to ensure that they have the opportunities and resources to thrive.

Sneha Dave (she/her) graduated from Indiana University in May 2020 where she majored in chronic illness advocacy as well as journalism. She created the Generation Patient and its program the Crohn’s and Colitis Young Adults Network (CCYAN) to create support systems for adolescents and young adults with chronic conditions across the U.S. and internationally. She is proud to work with a team composed entirely of young adults with chronic medical disabilities and to keep Generation Patient transparent and independent from the pharmaceutical and insurance industry.

Sneha has completed an undergraduate research fellowship in health policy at Harvard T.H. Chan School of Public Health. She has also interned at numerous places such as Pfizer Global Headquarters in health economics and outcomes research for Inflammation and Immunology. Sneha has spoken on Capitol Hill, featured nationally on C-SPAN, and is a past contributor for U.S. News and World Report. She has served on the Democratic National Committee Disability Policy Subcommittee and she is part of the Midwest Comparative Effectiveness Public Advisory Council, an independent appraisal committee of the Institute for Clinical and Economic Review. Sneha also serves on the patient engagement collaborative for the FDA. She was previously a national policy fellow at RespectAbility and now serves as the youngest director on the board for the national nonprofit. Sneha has won multiple awards for her advocacy work, so we are pleased to have her featured here on DNA Today! 

Shoutout to our Communications Lead, Corinne Merlino, for recommending Sneha Dave to be our guest. 

• Sneha’s personal experience with ulcerative colitis and how it led to becoming a patient advocate

• The mission and goals of Generation Patient and the Crohn's and Colitis Young Adults Network
• Some of the biggest challenges facing young adults living with chronic and rare conditions today
• The importance of increased representation of young adults in clinical trials and the impact it can have on the development of treatments
• Potential harms of DTC pharma advertising on Instagram and TikTok to young viewers and what can be done to mitigate that harm
• How the Generation Patient team ensures that the organization remains independent from the pharmaceutical and insurance industry
• How Sneha and her team at Generation Patient engages with the FDA
• Advice for young adults living with chronic or rare conditions who may feel isolated or unsupported in their experiences
• Advice for other young professionals that are seeking ways to be more involved and gain experiences in healthcare

You can learn more about Generation Patient and their different initiatives at the links below:

• Generation Patient's website
• Community and resources for college students with chronic conditions
• Registration for Generation Patient's 2023 Virtual Health Advocacy Summit
• The Crohn’s and Colitis Young Adults Network

Be sure to follow Generation Patient on Twitter, Facebook, and Instagram and our guest, Sneha Dave, on Twitter!

Stay tuned for the next new episode of DNA Today on Friday, June 16th, 2023 where our host Kira Dineen sits down with a household name and an icon in the world of talk shows. New episodes are released every Friday. In the meantime, you can binge over 240 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates within other clinical genetic software, databases, and hospital information systems to maintain accurate patient records. You can learn more in episodes 208, 210, and 237 of DNA Today! Use Promo code “DNATODAY” to get $800 off your subscription, that’s a discount of 80% exclusively to DNAToday listeners. Go check it out at trakgene.com. (Sponsored)

We are joined again by Janice Berliner joining us again on DNA Today. She was a guest on Episode 152 where we talked about her debut novel, Brooke’s Promise. In this episode we are chatting about her second novel, In Good Conscience, which features genetic counseling!

Aside from being a novelist, Janice Berliner is a board certified genetic counselor with more than 32 years of experience. In her roles as both a clinician and as the Director of the Master of Science in Genetic Counseling Program at Bay Path University. Her novels derive from her expertise working with families facing the risk of disease, and the intensely personal and life-altering nature genetic illness can have on family relationships. 

• How Janice’s genetic counseling experience influenced and inspired her while writing In Good Conscience
• The concept of “Duty To Warn” and how this applies in the genetics space

• Protections that celebrities have against people sharing their private information in public media spaces

• Support and resources available to genetic counselors when facing complex situations involving the duty to warn

• How advancements in genetic testing technologies and the availability of direct-to-consumer genetic testing impact the duty to warn

• Tease of Janice’s next novel
• Advice for applicants on matching from a program director

During the interview Janice mentioned a few cases of breached health data from healthcare workers. In 2007, Palisades Medical Center in New Jersey suspended 27 employees for a month for looking at George Clooney’s medical records after he had been treated for injuries sustained in a motorcycle accident (NY Times). In 2008, UCLA Medical Center fired or suspended more than 25 employees, including 6 physicians, for snooping in Britney Spears’ medical records during her stay in their psychiatric unit (LA Times). Again in 2010, UCLA Medical Center was fined $95,000 for failing to stop employees from accessing Michael Jackson's records. Two hospital workers and two contract employees were terminated (LA Times). 

Janice also mentioned the National Society of Genetic Counselors (NSGC) Code of Ethics. We both recommended GC Prep (one of our sponsors) for mentorship and resources on genetic counseling graduate school application process. GC Prep’s Mikayla Stoecker and Janelle Villiers were guests on Episodes #193 and #194 sharing application advice. DNA Today’s Patreon also includes one-on-one mentorship with our host Kira Dineen, you can sign up here. 

Kira also mentioned a few other DNA Today episodes including #234 Genetic Counseling History: 1st NSGC Conference and #235 Genetic Counseling History: ABGC Formation, 

To learn more about Janice and In Good Conscience, visit her ​​website, or check her out on Twitter, Facebook, LinkedIn, and Instagram. 

We will also give away 5 copies of her book on our social media channels. Search @DNATodayPodcast to enter on Instagram, LinkedIn, and Twitter! There’s a pic of our host, Kira, with the book on the beach, yes it’s a great beach read! Can’t wait to see if you won, buy the book here on Amazon (don’t forget to leave a review there and on Goodreads). 

Stay tuned for the next new episode of DNA Today on June 9th, 2023. New episodes are released every Friday. In the meantime, you can binge over 235 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates within other clinical genetic software, databases, and hospital information systems to maintain accurate patient records. You can learn more in episodes 208, 210, and 237 of DNA Today! Use Promo code “DNATODAY” to get $800 off your subscription, that’s a discount of 80% exclusively to DNAToday listeners. Go check it out at trakgene.com. (Sponsored)

Did you know that among patients with documented mild cognitive decline, about one-third progress to a diagnosis of Alzhiemer’s Disease? As the Alzheimer’s and dementia field evolves, new diagnostics are being developed working to provide answers in more and more accessible ways. Quest Diagnostics is leading the way in making Alzheimer's testing accessible through assessing biomarkers like ApoE isoforms and Beta-Amyloid plaques with blood instead of spinal fluid. Learn more about Alzheimer's Disease including Quest Diagnostics’s newest risk assessments in DNA Today’s Episode 236. Learn more about Quest’s tests here. (Sponsored)

As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. Listen to DNA Today Episode #224 Single Gene NIPT and #225 Fetal Antigen NIPT. (Sponsored) 

We want to take a moment to express our appreciation to all our incredible listeners. We have been enjoying getting to know some of you through our Patreon. As a patron you can gain benefits that take your DNA Today experience to the next level including our exclusive monthly club, behind the scenes podcast views, input on future episodes including interview questions, one on one mentorship with me, physical merch, and more! 

Speaking of our patrons, we want to give a special shoutout to some awesome listeners who have already joined us: Matthew, Hannah, Lynn, Sanya, Molly, Emily, Amanda, Ash, Cristina, and Wesley. Your support means the world to us, and we couldn't be more grateful for your contribution. It helps support the show and builds our engaging community. So join us here! 

In this episode we are discussing secondary findings and a study exploring what they mean for the patients who receive them.

Joining us for this discussion is Caralynn Wilczewski who is a genetic counselor for the Reverse Phenotyping Core and the Genomic Services Research Program in the National Human Genome Research Institute in the National Institutes of Health. In her current role, she provides genetic counseling and coordinates clinical research that uses a genotype-first approach to advance the goal of predictive genomic medicine. She obtained her bachelor’s in Molecular Biology with Honors from Loyola University Chicago and her PhD in Genetics and Molecular Biology from University of North Carolina at Chapel Hill. She then obtained a Master’s degree in Genetic Counseling from the joint program at Johns Hopkins University and the National Institutes of Health. 

Also joining us is Andrea Alvarez, a participant in the Genomic Services Research Program. Andrea joined a genetic sequencing study at Morehouse College and received an unexpected genetic test result which Alvarez will discuss in this episode!

In this episode we are discussing secondary findings, and a study exploring what they mean for the patients who receive them. Stay tuned as we will have another secondary findings installment coming soon to DNA Today!

On This Episode We Discuss:

• Population health studies and how they help us understand the role of genetics in disease risk and prevention
• Secondary findings and how someone might receive one
• Opting in/out regarding the reveal of secondary findings in population health studies
• What happens after someone finds out they have one of these unexpected genetic risk factors

• Andrea’s experience with receiving a surprising secondary finding and how it has impacted her life

• Support and next steps for people after the receive a secondary finding
• The Genomic Services Research Program’s study for patients with secondary findings and what it can offer to folks who participate
• How we can ensure that population health studies related to genetics are conducted in a way that is inclusive and representative of diverse populations

If you’d like to learn more about secondary findings, check out the ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing and this news article! 

Join or refer a patient to the Genomic Services Research Program (GSRP) study on secondary findings by filling out this survey. More resources below! 

Secondary findings resources for listeners: Clinicians  

List of ACMG secondary findings genes 

ClinGen Actionability Knowledge Repository: Search by gene or condition for brief summaries of most secondary findings conditions and risks with recommendations for surveillance, management, and treatment. 

ACMG ACT sheets: Short summaries of a few secondary findings genes and conditions with instructions on next steps for clinicians whose patients receive one of these results. 

Secondary findings resources for listeners: Patients  

MedlinePlus Genetics: What are secondary findings from genetic testing?

MedlinePlus Genetics: Patient-friendly information about genetic conditions and how genes can play a role in our health. 

If you’re interested in learning more about the Genomic Services Research Program and their study about secondary findings, please email them ([email protected]), call or text 240-408-0447, or visit genome.gov/GSRP.

Stay tuned for the next new episode of DNA Today on June 2nd, 2023 where we’ll be joined by Janice Berliner to discuss her latest novel, In Good Conscience, a genetics novel! New episodes are released every Friday. In the meantime, you can binge over 235 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

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