RARECast: How Researchers Diagnosed Four Patients with a Never-Before-Identified Rare Disease in a Day

Diagnosing a rare disease can take years. When it’s a disease that’s never been identified before, the search for a diagnosis can be that much more difficult. Daryl Scott, Associate Professor of Molecular and Human Genetics at Baylor College of Medicine, and colleagues diagnosed four patients on two continents with a never before identified rare disease in a day. The feat is recounted in a recent study published in the journal PLoS ONE (bit.ly/2oEXhy5). We spoke to Scott about the diagnosis, how it all came together, and what it says about the role of data and collaboration in medical detective work today.

RARECast is a weekly series by Daniel S. Levine. Levine is an award-winning business journalist who has reported on the life sciences, economic development, and business policy issues throughout his 25-year career. He founded Levine Media Group in 2013, which produces The Bio Report and RARECast podcasts. Read his full bio here.