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 (http://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.