Marshall Summar

Summar received his M.D. from the University of Tennessee Center for Health Sciences in 1985 and performed his pediatric residency at Vanderbilt University School of Medicine. From 1988-1990, Summar completed his clinical fellowship within the Division of Medical Genetics at Vanderbilt University School of Medicine – he trained in clinical/biochemical genetics and in genetics research.

From 1990 to 2010, Summar remained with Vanderbilt University School of Medicine, serving first as an associate and assistant professor.[7] In 2008, he was named a professor of the Department of Pediatrics and the Department of Molecular Physiology & Biophysics[8]

Summar joined Children’s National in 2010 as chief of the Division of Genetics and Metabolism, and became professor of Pediatrics at George Washington School of Medicine. In 2016, Summar was named as chairman of the board of directors for the National Organization for Rare Disorders (NORD), after serving as chair of the organization’s scientific and medical advisory committee since 2012.[9]

In January 2017, Children’s National announced the formation of the Children’s National Rare Disease Institute (CNRDI), center dedicated to advancing the care and treatment of children and adults with rare genetic disorders.[10] The CNRDI was designated by NORD as the first Center of Excellence for Clinical Care in Rare Disease in the United States.[11]

Led by Summar, who serves as director, the CNRDI’s primary goal is to improve the lifespan and quality of life for patients living with rare disease.[12] The Institute employs a multi-disciplinary team of healthcare specialists and serves as a medical home for rare disease patients.

Summar is considered an international expert on inborn errors of metabolism, specifically urea cycle disorders,[13][14] and his laboratory is best known for its work on rare disorders involving ammonia and nitrogen metabolism.[15] Summar’s work on urea cycle disorders has involved translational research, development of treatment protocols, and basic molecular research into rare defects in urea and nitrogen metabolism.

Summar also specializes in the development of devices and therapies for patients with rare genetic and biochemical diseases,[16] as well as applying knowledge from rare disorders to mainstream medicine. His current research is focused on the interactions between the environment and common genetic variations and involves research in asthma, heart disease, oxidant injury, pulmonary hypertension, liver disease, and Down syndrome.[17]

Summar’s work has yielded more than 55 international patents,[18] as well as new therapies in clinical trials (including the FDA) for patients dealing with congenital heart disease and premature birth.

In addition to his laboratory’s research, Summar is focused on newborn screening policy issues[19] and the development of testing and follow-up systems. He has also organized and headed international work groups focused on developing standards of care and treatment for rare disorders and developed a program in coordination with the NIH to help young children benefit from NIH research initiatives.[20]