Marshall Summar, M.D., is well-known for his pioneering work in 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 clinical division in the world seeing over 8,500 patients a year with rare diseases. Dr. Summar’s laboratory works on both devices and treatments for patients with genetic diseases and adapting knowledge from rare diseases to mainstream medicine. His work has resulted in new drugs in FDA trials for patients with congenital heart disease and premature birth. He has over 30 patents and patent applications. His laboratory is best known for its work in the rare diseases affecting nitrogen and ammonia metabolism.
Dr. Summar has also organized and led a large number of international work groups to develop standards of care and treatment for rare diseases resulting in significant improvements in outcomes. Dr. Summar developed a program with NIH where very young children can benefit from NIH research programs at Children’s National. Dr. Summar is board-certified in Pediatrics, Clinical Genetics and Biochemical Genetics and has been listed with Best Doctor’s in America since 2004. He serves on the board of directors of the National Organization for Rare Disorders (Chairman) and the Society of Inherited Metabolic Diseases (President). He directs the National Organization for Rare Diseases Scientific and Medical Advisory Committee and is spearheading an effort to develop national standards for families to collect information about poorly understood rare diseases affecting 25 million Americans. Dr. Summar also holds the Margaret O'Malley Professorship in Genetic Medicine. He is very active in newborn screening issues, developing testing and follow-up systems.