Gahl also demonstrated effective therapy for nephropathic cystinosis, bringing cysteamine to new drug approval by the Food and Drug Administration. 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.ĭr. Gahl's research has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. 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. 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.
from the University of Wisconsin in 1976. in biology from the Massachusetts Institute of Technology in 1972 and his M.D.
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