DiscoverBio Eats WorldSolving Medical Mysteries in the World of Rare Disease
Solving Medical Mysteries in the World of Rare Disease

Solving Medical Mysteries in the World of Rare Disease

Update: 2021-03-233
Share

Description

In this conversation, Stanford Professor Euan Ashley—geneticist, cardiologist, author of the new book, The Genome Odyssey, and first co-chair of the Undiagnosed Diseases Network—talks with Bio Eats World host Hanne Winarsky about one of the first places that genomic sequencing began to dramatically impact patients’ lives, and those of their families around them: in rare disease.

Rare disease is by definition, well, rare. But collectively, it’s surprisingly common: 1 in 15. In this episode, we talk about how rare disease became the clear first use case for genome or exome-scale sequencing, and how sequencing—and other new technologies, and the new information they give us—is changing how rare disease gets diagnosed. Ashley tells the stories of how the Undiagnosed Disease Network solved some of the most perplexing medical mysteries with cutting edge tools and technologies; and the lessons learned from the world of rare disease that we can use to impact our knowledge and our treatment of those with common disease.
Comments 
loading
00:00
00:00
x

0.5x

0.8x

1.0x

1.25x

1.5x

2.0x

3.0x

Sleep Timer

Off

End of Episode

5 Minutes

10 Minutes

15 Minutes

30 Minutes

45 Minutes

60 Minutes

120 Minutes

Solving Medical Mysteries in the World of Rare Disease

Solving Medical Mysteries in the World of Rare Disease

Euan Ashley, Hanne Winarsky