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Marshall L. Summar, MD

The Center for Neuroscience and Behavioral Medicine

Division Chief, Genetics and Metabolism

View CRI Profile for Marshall L. Summar
Specialties: Genetic Disorders, Urea Cycle Disorders

Board CertificationsAmerican Brd of Med Genetics/Clin Biochemical Gen
American Board of Med. Genetics/Clinical Genetics
American Board of Pediatrics
National Provider Identifier1336231745

Service LocationsChildren's National Medical Center - Sheikh Zayed Campus for Advanced Children's Medicine
111 Michigan Avenue, NW
Washington, DC 20010
Map | Driving Directions

Phone: 202-476-5000

Dr. Marshall Summar is the Chief of the Division of Genetics and Metabolism and the Margaret O’Malley Chair of Molecular Genetics. He joined Children's National from Vanderbilt University School of Medicine, where he directed the Program in Translational Genetics, the DNA Core program, and started the inborn errors of metabolism program. Dr. Summar is board-certified in Pediatrics, Clinical Genetics, and Biochemical Genetics.

Dr. Summar is an expert in translational studies, taking basic molecular genetics research and developing direct clinical applications. 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 metabolism. This involves clinical trials to improve the outcomes of patients with congenital heart defects, acute lung injury, asthma, and premature infants using compounds from metabolic pathways he studies.

Currently, the focus of Dr. Summar's research is the study of the interactions between common genetic variations and the environment. This work involves research in heart disease, asthma, pulmonary hypertension, oxidant injury and aging, Down syndrome, and liver disease.

Dr. Summar serves on the editorial board of The Journal of Pediatrics 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.

TypeSchoolLocationDegreeField of StudyYears
Undergraduate Education Vanderbilt University Nashville, TNBachelor of Science 1977 -1981
Medical School University of Tennessee College of Medicine Memphis, TNDoctor of Medicine 1981 -1985

Residency Program Vanderbilt University Nashville, TN, USAResident Pediatrics 1985 - 1988
Internship Program Vanderbilt University Nashville, TN, USAIntern Pediatrics 1985 - 1986
Fellowship Program Vanderbilt University Nashville, TN, USAFellow Genetics 1988 - 1990
National & International Recognitions
Best Doctors in America2010
Grant Liddle Research AwardVanderbilt University2005

Affiliations and Memberships
TitleInstitutionCommittee / SectionYears
MemberAmerican Society of Human Genetics1989 - 2010
MemberAmerican Academy of Pediatrics1989 - 2010
MemberSociety for the Study of Inborn Errors of Metabolism1996 - 2010
MemberSociety for Inherited Metabolic Disorders1996 - 2010
MemberAmerican College of Medical Genetics1999 - 2010
MemberSociety for Pediatric Research2002 - 2010
MemberUrea Cycle Disorder Consortium2004 - 2010
Board of DirectorsNational Organization of Rare Diseases (NORD)2012
TitleStudy NameInstitutionYears
Principal InvestigatorImproving Prematurity-Related Respiratory Outcomes at VanderbiltNational Institutes of Health2010 - 2015
InvestigatorChronic Progressive Hypoxia-Induced Pulmonary Hypertension in NewbornsNational Institutes of Health2010 - 2015
Principal InvestigatorProgram in Translational Genetics Asklepion Pharma 2007 - 2010
InvestigatorAngeleman and Prader Willi SyndromeVanderbilt University, Rare Disease Clinical Research Center2003 - 2009
InvestigatorUrea Cycle DisordersVanderbilt University, Rare Disease Clinical Research Center2003 - 2009
InvestigatorNitric Oxide Precursors and Congenital Heart SurgeryNational Institutes of Health2003 - 2008
InvestigatorReconstructing Biosocial (Pre) Histories in the AmericasVanderbilt University Discovery Grant2006 - 2008
Principal InvestigatorProgram in Translational Genetics Asklepion Pharma 2006 - 2007
Read more about the research interests of Marshall L. Summar
Journal Article, Kemp, B. M., Tung, T. A., and Summar, M. L (2009), Genetic continuity after the collapse of the Wari empire: Mitochondrial DNA profiles from Wari and post-Wari populations in the ancient Andes, Am.J.Phys.Anthropo.

Journal Article, Mitchell, S., Ellingson, C., Coyne, T., Hall, L., Neill, M., Christian, N., Higham, C., Dobrowolski, S. F., Tuchman, M., and Summar, M (2009), Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases, Hum.Mutat, 30, 56-60.

Journal Article, Ananthakrishnan, M., Barr, F. E., Summar, M. L., Smith, H. A., Kaplowitz, M., Cunningham, G., Magarik, J., Zhang, Y., and Fike, C (2009), D.L-Citrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn piglets, Am.J.Physiol Lung Cell Mol.Physiol, 297, 506-511.

Journal Article, Summar, M. L., Dobbelaere, D., Brusilow, S., and Lee, B (2008), Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes, Acta Paediatr, 97, 1420-1425.

Journal Article, Barr, F. E., Tirona, R. G., Taylor, M. B., Rice, G., Arnold, J., Cunningham, G., Smith, H. A., Campbell, A., Canter, J. A., Christian, K. G., Drinkwater, D. C., Scholl, F., Kavanaugh-McHugh, A., and (2007), Pharmacokinetics and safety of intravenously administered citrulline in children undergoing congenital heart surgery: potential therapy for postoperative pulmonary hypertension, J.Thorac.Cardiovasc.Surg, 134, 319-326.

Journal Article, Eeds, A. M., Mortlock, D., Wade-Martins, R., and Summar, M. L (2007), Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs, Am.J.Hum.Genet, 80, 740-750.

Journal Article, Smith, H. A., Canter, J. A., Christian, K. G., Drinkwater, D. C., Scholl, F. G., Christman, B. W., Rice, G. D., Barr, F. E., and Summar, M. L (2006), Nitric oxide precursors and congenital heart surgery: a randomized controlled trial of oral citrulline, J.Thorac.Cardiovasc.Surg, 132, 58-65.

Journal Article, Summar, M. L., Hall, L., Christman, B., Barr, F., Smith, H., Kallianpur, A., Brown, N., Yadav, M., Willis, A., Eeds, A., Cermak, E., Summar, S., Wilson, A., Arvin, M., Putnam, A., Wills, M., and Cunni (2004), Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase , Mol.Genet.Metab, 81, supp 1, 12-19.

Journal Article, Pearson, D. L., Dawling, S., Walsh, W. F., Haines, J. L., Christman, B. W., Bazyk, A., Scott, N., and Summar, M. L. (2001), Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function, N.Engl.J.Med, 344, 1832-1838.

Journal Article, Summar, M (2001), Current strategies for the management of neonatal urea cycle disorders, J.Pediatr, 138, 30-39.

For a more comprehensive list of publications for Marshall Summar, MD view the National Library of Medicine’s PubMed online database

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