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Bill Gahl receives HHS award

Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.

The Department of Health and Human Services (HHS) has awarded National Human Genome Research Institute (NHGRI) senior investigator Bill Gahl, M.D., Ph.D., the prestigious Career Achievement Award. This award recognizes his undeterred commitment to providing answers and possible treatments for people suffering from unknown and rare genetic conditions.  

Bill Gahl, M.D., Ph.D.

One of the highest honors bestowed by HHS, the Career Achievement Award "recognizes HHS employees with 10 or more years of service at HHS for dedication to the Department with a record of outstanding achievements with a high standard of excellence and dedication throughout their HHS career." Dr. Gahl is one of five recipients of the HHS Career Achievement Award this year.

"Bill's many years of contributions to genetics and genomics research, coupled with his passionate and dedicated care of numerous patients with rare diseases, make him overwhelmingly worthy of this career achievement award," said NHGRI Director Eric Green, M.D., Ph.D. "He exemplifies the best of a dedicated physician-scientist and serves as a role model for many others. NHGRI has been truly fortunate to have him within our ranks."

Dr. Gahl's signature achievement was the founding of the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) in 2008. The aim of the UDP is both simple yet extremely difficult - finding answers to  the most puzzling medical cases from around the world. Dr. Gahl has brought to the program some of the best scientific minds in medicine and genomics. In 2012, NIH expanded the program to form a nationwide Undiagnosed Diseases Network (UDN), which includes 12 clinical sites and supporting facilities across the country. The UDP's first discovery involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or ACDC, as the team called it). UDP published their work in the New England Journal of Medicine in 2011. To date, they have discovered 23 new genetic disorders and disease phenotypes. 

"The UDP has been an extraordinary engine of discovery that has markedly accelerated biomedical research while providing answers for our patients," remarked Dr. Dan Kastner, scientific director of the NHGRI Intramural Research Program.

For 16 years, Dr. Gahl served as NHGRI's Clinical Director, stepping down from that position in 2019. Colleagues and patient communities have often touted him to be a world-class medical geneticist, a premier researcher, a compassionate physician, and a visionary scientific leader.

"The HHS Career Achievement Award speaks to the incredible opportunities offered by the NIH Intramural Research Program, the Clinical Center, and the expert scientists and physicians who have been my colleagues and friends for more than a generation," said Dr. Gahl, responding to receiving the award. "To me, the NIH reflects the best that our government has to offer, and I am incredibly honored and grateful to be part of that."

Last updated: May 11, 2020