Rare diseases present a unique challenge in both diagnosis and treatment, given the small number of cases, often leaving them undiagnosed. I talk with Professor Isaac Kohane of Harvard Medical School about the Undiagnosed Diseases Network's efforts to catalogue and diagnose rare diseases, focusing on the role that data science--specifically, merging genotype and phenotype information, can play in bringing about hope to the families of affected individuals. We also discuss efforts to aggregate EHR data from hospitals across the world in order to better predict COVID-related symptoms and outcomes, faster than most healthcare systems have been able to.
Check out the glossary of terms, definitions, and resources (and get a sneak peak of the future conversations lined up!) here: bit.ly/datapulse-glossary
The Data Pulse