Marshall L. Summar, M.D.
- Director, Rare Disease Institute Library
- Margaret O'Malley Chair, Genetic Medicine
Marshall L. Summar, M.D., is director of the Rare Disease Institute Laboratory at Children’s National Hospital and holds the Margaret O'Malley Professorship in Genetic Medicine. He leads the largest clinical division of its kind in the world, treating more than 7,000 patients per year with rare diseases. Dr. Summar is known for his pioneering work in caring for children diagnosed with rare diseases. Dr. Summar’s laboratory works on both devices and treatments for patients with genetic and biochemical diseases and adapting knowledge from rare diseases to mainstream medicine. His work has resulted in new drugs in Food and Drug Administration (FDA) trials for patients with congenital heart disease and premature birth.
Dr. Summar serves on the Board of Directors (Treasurer) of the National Organization of Rare Diseases (NORD) and chairs NORD’s Scientific and Medical Advisory Committee He is also the president of the Society of Inherited Metabolic Diseases and Chairs the Federal Government’s Rare Disease Advisory Panel for the Patient-Centered Outcomes Institute.
At NORD, where he was recognized with a Lifetime Achievement Award in 2022, Dr. Summar is spearheading an effort to develop national standards for families to build natural history registries to collect information about poorly understood rare diseases. Dr. Summar is active in newborn screening and telehealth efforts to work in under-resourced areas. He joined Children’s National in 2010 from Vanderbilt University.