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William A. Gahl
William A. Gahl is the current Clinical Director of the National Human Genome Research Institute at the NIH main campus in Bethesda, MD.〔http://www.genome.gov/10005723〕
Gahl graduated with a BS degree from Massachusetts Institute of Technology in 1972. He earned his MD degree from the University of Wisconsin, Madison in 1976 and his PhD degree in 1981. Gahl is a board-certified medical geneticist.
Gahl studies rare inborn errors of metabolism through the observation and treatment of patients in the clinic and through 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.
Gahl was the leader〔http://www.scientificamerican.com/article/the-medical-sleuth/〕 in creating the National Institutes of Health Undiagnosed Diseases Program (UDP). The UDP〔http://www.genome.gov/27544402〕 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 expands the effort to six more clinical sites at academic medical centers across the US, along with two DNA sequencing cores and a coordinating center.
==Selected publications==
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