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Clinical Genetics Branch

Spotlight on Douglas Stewart, M.D., Tenure-track Investigator

Dr. Douglas Stewart received his M.D. from the University of Pennsylvania School of Medicine in 1998. He completed a residency in internal medicine at the Hospital of the University of Pennsylvania in 2001 and training in medical genetics at the Children’s Hospital of Philadelphia in 2004. He is board-certified in both internal medicine and clinical genetics. He had post-doctoral training in genetics in the laboratory of Richard Spielman at Penn from 2002-2004.

In 2004, he joined the National Human Genome Research Institute as part of the Physician Scientist Development Program, to investigate the classic monogenic tumor predisposition syndrome neurofibromatosis type 1 (NF1). In recognition of his work in NF1, he was named one of NIH’s first Earl Stadtman Investigators when he joined DCEG’s Clinical Genetics Branch in the summer of 2010. His major current research interests include the pleuropulmonary blastoma (PPB) tumor predisposition syndrome (the first human cancer susceptibility disorder caused by germline mutations in a micro-RNA gene, DICER1), the adult manifestations of RAS-pathway disorders (especially NF1 and Legius syndrome), next-generation sequencing of NF1-associated tumors, and the characterization of novel features of NF1. Dr Stewart was responsible for the early detailed characterization of the chromosome 9q sub-telomeric deletion syndrome (now known as Kleefstra syndrome) and the recognition (with Eric Legius, Leuven Belgium) of glomus tumors as part of the NF1 tumor spectrum.