Dr. Summar is well-known for his pioneering work in caring for children diagnosed with rare diseases. He is now the CEO, Uncommon Cures, LLC, a rare disease clinical trials company focused on physically consolidating trials and using innovative technology to reduce time and cost. He joined Children’s National in 2010 where he still leads the Rare Disease Institute Laboratories. After 12 years, he stepped down in 2022 as Chief of the Division of Genetics & Metabolism and Founding Director of the Rare Disease Institute, the first dedicated home for the clinical care of patients with genetic rare diseases and The National Organization for Rare Disorders first designated Rare Disease Clinical Center of Excellence.
Dr. Summar’s laboratory works on both devices, diagnostics, and treatments for patients with genetic rare conditions and adapting knowledge from rare diseases to mainstream medicine. This work has led to over 170 peer-reviewed publications. His work has resulted in new drugs in FDA clinical trials for patients with sickle cell anemia, congenital heart disease and premature birth. He has over 100 international patents. His laboratory is best known for its work in the rare diseases affecting nitrogen, ammonia, and amino acid metabolism. Dr. Summar has also organized and led a number of international work groups to develop and publish standards of care and treatment for rare diseases. He is currently heading a funded project to develop a new software platform for developing and housing practical clinical protocols for rare diseases called RareCap. He has built remote/telemedicine programs to reach patients currently without genetic care access.
Dr. Summar is board-certified in Pediatrics, Clinical Genetics, and Biochemical Genetics. He served as President of the Board of Directors of the National Organization for Rare Disorders and is the past president of the Society for Inherited Metabolic Disorders. At NORD he was part of the effort that created digital registries for families (IAMRARE) and the NORD Clinical Centers of Excellence program. He serves on the Board or Advisory Committees for: The Black Women’s Health Imperative Rare Disease Diversity Coalition, PHLOW Pharmaceuticals, NIH’s National Center for Advancing Translational Sciences, Hemoshear Therapeutics, Arkansas Children’s Research Institute, ACMG Public Policy Committee, NORD’s Public Policy Committee, the Advisory Board of the Swiss URPP ITINERARE, and others. In 2022, Dr. Summar was awarded NORD’s prestigious Lifetime Achievement Award for his work in Rare Disease.
Specialties: Clinical Genetics, Biochemical Genetics, Rare Disease Clinical Trials, Molecular Genetic Research, Genetic-Environmental Interactions
