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The Children's National Research Institute

Research Profile

Research Interests

  • Inborn errors of metabolism
  • Genetics

Education & Training

  • B.S., Molecular Biology, Vanderbilt University, Nashville, TN, (1977-1981)
  • M.D., Medicine, University of Tennessee Center for Health Sciences, Memphis, TN, (1981-1985)
  • Residency & Internship, Pediatrics, Vanderbilt University Medical Center, Nashville, TN, (1985-1988)
  • Fellowship, Medical Genetics, Vanderbilt University Medical Center, Nashville, TN, (1988-1990)

Biography

Marshall L. Summar, M.D., is Chief of the Division of Genetics and Metabolism 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, 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 underserved areas. He joined Children’s National in 2010 from Vanderbilt University.

This faculty member (or a member of their immediate family) has a working relationship (i.e. consulting, research, and/or educational services) with the companies listed below. These relations have been reported to the health system leadership and, when appropriate, management plans are in place to address potential conflicts.

Outside Interests

  • Asklepion Pharmaceuticals


Research & Publications