Approximately half of all severe developmental disorders are caused by de novo (new, not inherited) mutations in protein-coding genes. But which genes? In this episode of the Bio Eats World Journal Club, Vineeta Agarwala (@vintweeta) and Lauren Richardson (@lr_bio) discuss a recent article finding new genes linked to developmental disorders and highlighting how many still need to be decoded.
Vineeta Agarwala, physician and a16z general partner, and host Lauren Richardson discuss the Nature article "Evidence for 28 genetic disorders discovered by combining healthcare and research data", its key implications, and how this work can impact patients and parents.