Dr. William A. Gahl earned his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of Wisconsin in 1976. He obtained a Ph.D. degree in oncology research from Wisconsin's McArdle Laboratories for Cancer Research in 1981 and served as pediatric resident and chief resident at the University of Wisconsin hospitals from 1976-80. In 1984, he completed clinical genetics and clinical biochemical genetics fellowships at the NIH's Interinstitute Medical Genetics Training Program, which he directed from 1989 to 1994. Dr. Gahl's research has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane transporters that carry cystine and sialic acid, respectively, out of the lysosome.
Dr. Gahl also demonstrated effective therapy for nephropathic cystinosis, bringing cysteamine to new drug approval by the Food and Drug Administration. His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney disease, Chediak-Higashi disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3-methylglutaconic aciduria type III, 3 types of HPS, and neutropenia due to VPS45 deficiency. He has published more than 450 peer-reviewed papers and trained 42 biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical genetics. He served on the board of directors of the ABMG and ASHG, as president of the Society for Inherited Metabolic Disorders, and was elected to the American Society for Clinical Investigation and the Association of American Physicians.