Episode Summary

For people with common health problems like diabetes or high blood pressure or high cholesterol, progress in pharmaceuticals has worked wonders and extended lifespans enormously. But there’s another category of people who tend to get overlooked by the drug industry: patients with rare genetic disorders that affect only one in a thousand or one in two thousand people. If you add up all the different rare genetic disorders known to medicine, it’s actually a very large number; Harry's guest this week, Charlene Son Rigby, says there may be as many as 10,000 separate genetic disorders affecting as many as 30 million people in the United States and 350 million people worldwide. That's a lot of people who are being underserved by the medical establishment. Rare-X, the non-profit organization Rigby heads, is trying to help by creating a common data infrastructure for rare disease research. The basic idea is to take the burden of data management off of rare disease patients and their families and create a single central repository that can help accelerate drug development.

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