Marshall Summar

Dr. Marshall Summar is a leading figure in rare disease care and research, with more than 40 years of experience. As a board-certified pediatrician and geneticist, he specializes in clinical and biochemical genetics, focusing on genetic-environmental interactions. His expertise extends to rare disease clinical trials, where he has driven innovations in trial design, therapies, and patient outcomes.

In 2022, Dr. Summar founded Uncommon Cures, where he serves as Chief Executive Officer. The company aims to enhance rare disease clinical trials by consolidating resources and incorporating technology to streamline processes. His career began at Vanderbilt University, where he held leadership roles in the Center for Human Genetic Research, the Medical Genetics Division, the CTSA grant, the Cancer Center, the General Clinical Research Center (GCRC) and was promoted to Tenured Professor.

At Children’s National Medical Center, he served as Director of the Clinical Research Center, Division Chief for Genetics and Metabolism, and was the founding director of the Rare Disease Institute—the first dedicated clinical center for patients with genetic rare diseases—and the inaugural NORD-designated Rare Disease Center of Excellence as well as serving as a tenured professor at George Washington University and awarded Emeritus Status. Dr. Summar’s contributions include over 180 peer-reviewed publications and more than 100 international patents on therapies, devices, and software. His work has yielded FDA-approved treatments and supported ongoing trials for conditions like sickle cell anemia.