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Genetics Unzipped

S6.04: The diagnostic odyssey: A journey into genetic testing for rare diseases

38 min • 23 februari 2023

We’re off on a journey to the world of rare genetic disorders, exploring the diagnostic odyssey that patients go on in search of answers, research into variants of unknown significance and new approaches for treating the rare disease Aicardi-Goutières Syndrome (AGS)

Full show notes, transcript and references online at GeneticsUnzipped.com 

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This episode of Genetics Unzipped was written and presented by Kat Arney with audio production by Emma Werner and Sally Le Page.


This podcast is produced by First Create the Media for the Genetics Society - one of the oldest learned societies dedicated to promoting research, training, teaching and public engagement in all areas of genetics.

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