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, a16z general partner and physician Vineeta Agarwala and host Lauren Richardson discuss the recent Nature article “Evidence for 28 genetic disorders discovered by combining healthcare and research data“, which identifies new genes linked to developmental disorders and highlights how many still need to be decoded. They cover how genetic and clinical data can be leveraged to reveal new insights about these devastating conditions and how this information may impact parents and patients.
November 19, 2020