Washington, DC

Division Chief, Genetics and Metabolism, Margaret O’Malley Chair in Genetic Medicine, Medical Director, Clinical Research Center, and Vice-Chair External Affairs, Children’s National Medical Center
Professor of Pediatrics, George Washington Medical College

Represented: Clinicians
Former Panel Chair

Marshall L. Summar is Division Chief, Genetics and Metabolism, and Medical Director, Clinical Research Center, at Children’s National Medical Center, the largest clinical division internationally caring for rare diseases. His laboratory works on devices and treatments for patients with genetic diseases and adapting knowledge from rare diseases to mainstream medicine. His research team is best known for its work in rare diseases affecting nitrogen and ammonia metabolism. He also works on newborn screening issues, developing testing and follow-up systems. He has organized and led a large number of international workgroups to develop standards of care and treatment for rare diseases, and serves on the Board of Directors of the National Organization of Rare Diseases and the Society of Inherited Metabolic Diseases. He is board certified in pediatrics, clinical genetics, and biochemical genetics, and has been listed in Best Doctors in America since 2004.

Summar served as a member of the Advisory Panel on Rare Disease from April 2014 - September 2017.

Conflicts of Interest

As of April 30, 2014:

  • Children’s National Medical Center, Employee
  • National Institutes of Health, Grantee
  • Invitae, Ad Hoc Consultant
  • Cydan, Ad Hoc Consultant
  • National Organization for Rare Diseases Advisory Board, Member
  • Hyperion Advisory Board, Member
  • Biomarin Advisory Board, Member
  • NIH Urea Cycle Disorders Consortium, Principal Investigator
  • Asklepion Pharmaceuticals, License to Intellectual Property
  • Zürich Kinderspital Rare Disease Institute, Board Member
  • Society for Inherited Metabolic Disorders, Board Member
  • Medscape, Board Member
  • WebMD, Board Member
  • Children’s National Medical Center, Employee (wife)
  • U.S. Congress, Employee (wife)


Person Type