William A. Gahl

William A. Gahl currently serves as the Clinical Director of the National Human Genome Research Institute at the NIH main campus in Bethesda, MD.

Gahl conducts research on rare inborn errors of metabolism, focussing 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 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.