Skip to main content Skip to navigation
We care about your privacy. Read about your rights and how we protect your data. Get Details

Education & Training

  • Fellowship, 1990
    Vanderbilt University
  • Residency, Pediatrics, 1988
    Vanderbilt University
  • Internship, Pediatrics, 1986
    Vanderbilt University
  • MD, 1985
    University of Tennessee College of Medicine
  • BS, 1981
    Vanderbilt University

Board Certifications

  • American Board of Medical Genetics/Biochemical
  • American Board of Pediatrics
  • American Board of Medical Genetics & Genomics

National Provider ID: 1336231745


Marshall Summar, M.D., is well-known for his pioneering work in caring for children diagnosed with rare diseases. He joined Children’s National Hospital in 2010 from Vanderbilt University and holds board certifications in both pediatrics and clinical genetics and biochemical genetics. 

At Children’s National, Dr. Summar leads the Division of Genetics and Metabolism, currently the largest clinical division in the world, seeing over 8,000 patients a year with rare diseases. Dr. Summar’s laboratory works on both devices and treatments for patients with genetic diseases while transferring knowledge from rare diseases to support advancements in mainstream medicine. 

His work has resulted in new drugs in FDA trials for patients with congenital heart disease and premature birth. Dr. Summar holds more than 60 patents and has published more than 160 peer-reviewed research studies.

Dr. Summar developed and launched the world’s first Rare Disease Institute (RDI) at Children’s, which is located on the Children’s National Research & Innovation Campus, a first-of-its-kind pediatric research and innovation hub in Washington, D.C.

In 2022, the National Organization for Rare Disorders (NORD®) recognized Dr. Summar with a Lifetime Achievement Award.

This faculty member (or a member of their immediate family) has a working relationship (i.e. consulting, research, and/or educational services) with the companies listed below. These relations have been reported to the health system leadership and, when appropriate, management plans are in place to address potential conflicts.

Outside Interests

  • Asklepion Pharmaceuticals

Research & Publications

Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs

(2007) Am. J. Hum. Genet

Current strategies for the management of neonatal urea cycle disorders

(2001) J. Pediatr

Diagnosis symptoms frequency and mortality of 260 patients with urea cycle disorders from a 21year multicentre study of acute hyperammonaemic episodes

(2008) Acta Paediatr

DLCitrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn piglets

(2009) Am. J. Physiol Lung Cell Mol. Physiol

Genetic continuity after the collapse of the Wari empire Mitochondrial DNA profiles from Wari and postWari populations in the ancient Andes

(2009) Am. J. Phys. Anthropo

Genetic variation in the urea cycle a model resource for investigating key candidate genes for common diseases

(2009) Hum. Mutat

Neonatal pulmonary hypertension urea cycle intermediates nitric oxide production and carbamoylphosphate synthetase function

(2001) N. Engl. J. Med

Nitric oxide precursors and congenital heart surgery a randomized controlled trial of oral citrulline

(2006) J. Thorac. Cardiovasc. Surg

Pharmacokinetics and safety of intravenously administered citrulline in children undergoing congenital heart surgery potential therapy for postoperative pulmonary hypertension

(2007) J. Thorac. Cardiovasc. Surg