William A. Gahl, MD, PhD Received the 2023 Roscoe O. Brady Award

View Dr. Gahl’s scientific presentation Pursuing Advances in Rare and Undiagnosed Diseases on YouTube.

Dr. Gahl is the Director of the Undiagnosed Diseases Program, a Senior Investigator in the Medical Genetics Branch and the Head of the Human Biochemical Genetics Section of the National Human Genome Research Institute (NHGRI).

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. William A. Gahl graduated from the Massachusetts Institute of Technology and earned his M.D. and Ph.D. from the University of Wisconsin. He served as pediatric resident and chief resident at the University of Wisconsin hospitals and completed clinical genetics and clinical biochemical genetics fellowships at the NIH. Dr. Gahl elucidated the basic defects in cystinosis and Salla disease and helped bring cysteamine to new drug approval by the Food and Drug Administration as the treatment for cystinosis.

He has published over 650 papers, reviews, book chapters, and editorials, trained 42 biochemical geneticists and cultivated international experts in Hermansky-Pudlak syndrome, alkaptonuria, Oculocerebrorenal Syndrome of Lowe, Menkes disease, Congenital Disorders of Glycosylation, Griscelli Syndrome, Gray Platelet Syndrome, Joubert Syndrome, polycystic kidney disease and other ciliopathies, Hutchinson-Gilford Progeria, GNE myopathy, oculocutaneous albinism, sialuria, and free sialic acid storage disorders. His group identified the genes responsible for Hartnup disease, Gray Platelet Syndrome, two types of renal Fanconi syndrome, 3-methylglutaconic aciduria type III, a new neutrophil defect, and many other disorders.

In 2008, he established the NIH Undiagnosed Diseases Program (UDP), which has made more than 350 rare disease diagnoses and discovered 30 new genetic diseases. Dr. Gahl expanded the UDP to a national Undiagnosed Diseases Network and a worldwide Undiagnosed Diseases Network International. He established American Board of Medical Specialties certification for medical biochemical genetics. Dr. Gahl received the Dr. Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, the EURORDIS Lifetime Achievement Award, and numerous other awards. In 2019, he was elected to the National Academy of Medicine.

Congratulations to Dr. Gahl from the entire WORLDSymposium audience! Dr. Gahl received the 2023 Roscoe O. Brady Award on Wednesday, February 22, 2023 at 7:30 AM EST, and this was followed by Dr. Gahl’s scientific presentation Pursuing Advances in Rare and Undiagnosed Diseases (view on YouTube).