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William A. Gahl formerly served (2002 to 2019) as the Clinical Director of the National Human Genome Research Institute at the NIH main campus in Bethesda, MD. [1]
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Gahl graduated with a BS degree from Massachusetts Institute of Technology in 1972. He earned his MD degree in 1976 and his PhD degree in 1981 degree from the University of Wisconsin, Madison. Gahl is board-certified in medical geneticist, biochemical genetics, and pediatrics.
Gahl conducts research on rare inborn errors of metabolism, focusing on the observation and treatment of patients in the clinic as well as carrying out biochemical, molecular biological, and cell biological investigations in the laboratory. His group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and sialic acid diseases. [2]
Gahl was the leader [3] in creating the National Institutes of Health Undiagnosed Diseases Program (UDP). The UDP [4] is a trans-National Institutes of Health (NIH) initiative that focuses on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Md. The program's success led to the creation of the Undiagnosed Diseases Network, which eventually expanded the effort to encompass eleven additional clinical sites at academic medical centers across the US, along with a DNA sequencing core, a coordinating center, a metabolomics core, a central biorepository, and a model organisms screening center.
He was elected to the National Academy of Medicine in 2018. [5]