Scientific Advisory Board

Marshall Summar, MD

Marshall Summar, MD

Marshall Summar, MD, serves as Chief of the Division of Genetics and Metabolism, Director of the Rare Disease Institute and is the Margaret O’Malley Chair of Genetic Medicine at Children’s National Hospital (Children’s National). Well-known for his pioneering work in caring for children diagnosed with rare diseases, he joined Children’s National in 2010 from Vanderbilt University. In addition to guiding clinical research and treatment, Dr. Summar developed and launched the world’s first Rare Disease Institute (RDI) at Children’s National. The RDI is the first Clinical Center of Excellence designated by the National Organization for Rare Diseases (NORD) and focuses on building best clinical practices and diagnostic pathways for patients. With NORD and the FDA, Dr. Summar has worked to develop a patient-driven natural history platform employed by over 35 rare disease advocacy organizations. Dr. Summar is the current Board of Directors’ Chairman for NORD, the past president for the Society for Inherited Metabolic Disorders and serves on a number of rare disease-related advisory groups. He holds more than 60 patents and patent applications, has published more than 140 peer-reviewed research studies and has guided more than 25-funded research projects, with support from the National Institutes of Health (NIH), industry and independent philanthropists. Dr. Summar received his BS in molecular biology from Vanderbilt University and his MD from University of Tennessee Center for Health Sciences.

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