Educating Docs to Improve Diagnosis and Treatment of Genetic Metabolic Diseases

RARECast - A podcast by RARECast - Thursdays

Categories:

There are about 1,000 metabolic disorders, but these genetic rare diseases can go undiagnosed in part because most doctors have so little training in recognizing them. To address this problem, the Genetic Metabolic Center for Education provides both consulting and training in the hopes of improving the diagnosis and care of these patients. We spoke to Mark Korson, medical director of the Genetic Metabolic Center for Education, about the challenges metabolic disorders pose, why so many people go undiagnosed, and how the center is seeking to fundamentally change the way that knowledge is disseminated in the hopes of increasing patient access to a diagnosis and treatment.