Marshall L. Summar, MD

Marshall L. Summar, MD, is well-known for his pioneering work caring for children diagnosed with rare diseases. He joined Children’s National in 2010 from Vanderbilt University. At Children’s National, he leads the Division of Genetics and Metabolism, currently the largest known clinical division seeing more than 8,000 patients with rare diseases each year. Summar’s laboratory works on both devices and treatments for patients with genetic diseases and adapts knowledge from rare diseases to mainstream medicine. His work has resulted in new drugs used in FDA trials for patients with congenital heart disease. His laboratory is best known for its work in the rare diseases affecting nitrogen and ammonia metabolism. Summar has also organized and led numerous international work groups to develop standards of care and treatment for rare diseases, which have significantly improved outcomes.

Summar is the past chairman for the board of the National Organization for Rare Disorders and currently chairs their Scientific and Medical Advisory Committee. He is very active in newborn screening issues and has  developed testing and follow-up systems. He has also developed and launched the world’s first Rare Disease Institute at Children’s National Hospital. The Rare Disease Institute focuses on building best clinical practices and diagnostic pathways for the more than 7,000 rare diseases, and is the first Clinical Center of Excellence designated by the National Organization for Rare Disorders. 

Summar receive his bachelor’s degree in molecular biology from Vanderbilt University and earned his medical degree from the University of Tennessee Center for Health Sciences. He went on to complete a pediatrics residency and genetics postdoctoral fellowship at the Vanderbilt