Marshall L. Summar, MD, is Chief of the Division of Genetics and Metabolism at Children’s National Health System 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, 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 telemedicine efforts to work in underserved areas. He joined Children’s National in in 2010 from Vanderbilt University.