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 and holds board certifications in both pediatrics and clinical genetics and biochemical genetics. He has been listed with Best Doctor’s America since 2004.
At Children’s, 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 patent applications, has published more than 140 peer-reviewed research studies and has guided more than 25-funded research projects, with support from the NIH, industry and independent philanthropists. His laboratory is best known for its work in the rare diseases affecting nitrogen and ammonia metabolism.
In addition to guiding clinical research and treatment, Dr. Summar developed and launched the world’s first Rare Disease Institute (RDI) at Children’s. This RDI focuses on developing the clinical care field of more than 7,000 rare diseases currently recognized. The RDI is the first Clinical Center of Excellence designated by the National Organization for Rare Diseases (NORD) and focuses on building best clinical practices and diagnostic pathways for patients.
Dr. Summar is part of the Global Commission to reduce the time to diagnosis for rare disease and is partnering with Microsoft to develop an undiagnosed patient registry program with NORD. With NORD and the FDA, Dr. Summar has worked to develop a patient-driven natural history platform employed by over 35 rare disease advocacy organizations.
Dr. Summar is the current Board of Directors Chairman for NORD, the past president for the Society for Inherited Metabolic Disorders and serves on a number of rare-disease related advisory groups.