Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… involved uncovering the genetic basis of the rare disease arterial calcification due to deficiency of cd73 (or acdc , as the team called it). …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… types of hermansky-pudlak syndrome, for proteus syndrome, arterial calcification due to deficiency of cd-73 ( acdc ), and for a new form of …
Dr. William A. Gahl is the Clinical Director for the National Human Genome Research Institute and the director of the NIH Undiagnosed Diseases Program.
… genetic bases of gray platelet syndrome, hartnup disease, arterial calcification due to deficiency of cd73, 3-methylglutaconic aciduria type …