Clinical Director, NHGRI
Director, NIH Undiagnosed Diseases Program
Building 10, Room 10C-103
10 Center Drive, MSC 1851
Bethesda, MD 20892-1851
I received my undergraduate degree from MIT in 1972 and my M.D. and Ph.D. with Henry Pitot in McArdle in 1981 from the University of Wisconsin. I completed a residency in pediatrics at the University of Wisconsin and a postdoctoral fellowship in genetics at the National Institutes of Health. I am certified in Pediatrics, Clinical Genetics, and Clinical Biochemical Genetics. I am past president of the Society for Inherited Metabolic Disorders, and a member of the American Society for Clinical Investigation and the Association of American Physicians and an international expert in cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and disorders of free sialic acid metabolism. I am currently Clinical Director of the National Human Genome Research Institute, Director of the intramural program of the Office of Rare Diseases, and Director of the NIH Undiagnosed Diseases Program. In 2011, I received the Service to America Award. Disclaimer: I am serving on the McArdle Alumni Advisory Board in my personal capacity.