Marshall Summar | Chief Executive Officer
Uncommon Cures

Dr. Marshall L. Summar is a recognized leader in the field of rare diseases, with over 40 years of experience in clinical care, research, and innovation. He is the Chief Executive Officer of Uncommon Cures, LLC, a company specializing in rare disease clinical trials. The company focuses on consolidating trials and utilizing technology to reduce time and cost. He co-founded Uncommon Cures in 2022 after a long career in academic medicine and research. Dr. Summar began his career at Vanderbilt University, where he advanced from assistant professor to a tenured professor in Pediatrics and Molecular Physiology & Biophysics. His work at Vanderbilt focused on inborn errors of metabolism, particularly urea cycle disorders. In 2010, he joined Children’s National Hospital in Washington, D.C., as Chief of the Division of Genetics and Metabolism. He later established and led the Rare Disease Institute, the first clinical home dedicated to patients with genetic rare diseases, and secured its designation as the first Rare Disease Clinical Center of Excellence by the National Organization for Rare Disorders (NORD). Dr. Summar’s research has produced over 180 peer-reviewed publications and resulted in more than 120 international patents, covering therapies, software, and devices. His work has contributed to new treatments for conditions such as sickle cell anemia, organic acidemias, congenital heart disease, and complications of premature birth. Several of these treatments are currently in FDA trials. His expertise extends to translating biochemical research into clinical practice, particularly in the areas of ammonia and nitrogen metabolism. He is board-certified in Pediatrics, Clinical Genetics, and Biochemical Genetics. Dr. Summar has served as President of the Board of Directors for NORD and as President of the Society for Inherited Metabolic Disorders. At NORD, he was involved in developing the IAMRARE digital registries for patients and the Clinical Centers of Excellence program. His advisory roles include serving on committees and boards for organizations such as the Black Women’s Health Imperative Rare Disease Diversity Coalition, PHLOW Pharmaceuticals, NIH’s National Center for Advancing Translational Sciences, and the American College of Medical Genetics’ Public Policy Committee. Dr. Summar has received numerous recognitions for his work, including NORD’s Lifetime Achievement Award in 2022. His career demonstrates a consistent focus on improving the diagnosis and management of rare genetic disorders, advancing research, and fostering collaboration among clinicians, researchers, and families. His work at Uncommon Cures continues this trajectory, emphasizing efficient and effective clinical trials for rare diseases.