Podnosis
The evolving state of exome and genome sequencing
25:56
Rare diseases, defined in the U.S. as conditions affecting fewer than 200,000 people, can take years, if not decades, to diagnose. About 10,000 rare diseases affect 30 million Americans, and half of those patients are children.
What if rare diseases could be identified early and treated proactively before they progress? That is becoming more possible thanks to advances in genetic testing. One…