Visiting Professor Marshall Summar MD

Dr. Marshall Summar – accepted to lead our Annual Exchange and Educational Program for IEM Disorders. He visited and developed lectures in Argentina – Chile – Colombia and Brazil. We wish to continue working together with his team at the Children’s National Hospital in order to help expand knowledge and technologies that will help our local patients and their families.

Marshall L. Summar, MD, is Chief of the Division of Genetics and Metabolism and the Margaret O’Malley Chair of Molecular Genetics at Children’s National Medical Center. Dr. Summar is an international expert in inborn errors of metabolism particularly those in the urea cycle. His research involves translational studies taking basic molecular genetics research and developing direct clinical applications. He also is the Director for the NIH sponsored Clinical Research Center at Children’s National. His work has piloted treatments from the rare disease field to common conditions especially in the intensive care and emergency room setting. His work in the urea cycle has involved the development of treatment protocols, translational research, and basic molecular research into these rare defects in nitrogen and urea metabolism. He is one of the founding Investigators of the Urea Cycle Disorders Consortium and works with international coordination of its efforts. Current research projects involve clinical trials working to improve the outcomes of patients with congenital heart defects, acute lung injury, asthma, and premature infants using compounds from metabolic pathways he studies. He is also involved in device development around biochemical detection.

He serves on the board of the National Organization of Rare Diseases and Chairs its Scientific Advisory Committee and is the president-elect for the Society of Inherited Metabolic Disease. He serves on the NIH study section for the CETT program, the National Human Genetic Research Institute Fellowship Training Program Board, and the NASA radiation research review panel. He is the advisor for the European Inherited Metabolic Disease Consortium and on the working group for joint US-EU research in rare disease.

Specialties: Clinical Genetics, Biochemical Genetics, Molecular Genetic Research, Genetic-Environmental Interactions