Marshall Summar, M.D., is well-known for his pioneering work in caring for children diagnosed with rare diseases. He joined Children’s National Hospital in 2010 from Vanderbilt University and holds board certifications in both pediatrics and clinical genetics and biochemical genetics.
At Children’s National, Dr. Summar leads the Division of Genetics and Metabolism, currently the largest clinical division in the world, seeing over 8,000 patients a year with rare diseases. Dr. Summar’s laboratory works on both devices and treatments for patients with genetic diseases while transferring knowledge from rare diseases to support advancements in mainstream medicine.
His work has resulted in new drugs in FDA trials for patients with congenital heart disease and premature birth. Dr. Summar holds more than 60 patents and has published more than 160 peer-reviewed research studies.
Dr. Summar developed and launched the world’s first Rare Disease Institute (RDI) at Children’s, which is located on the Children’s National Research & Innovation Campus, a first-of-its-kind pediatric research and innovation hub in Washington, D.C.
In 2022, the National Organization for Rare Disorders (NORD®) recognized Dr. Summar with a Lifetime Achievement Award.