Marshall Summar, MD, is the Chief of the Division of Genetics and Metabolism and the Margaret O’Malley Chair of Molecular Genetics. He joined Children's National Health System 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 National Institutes of Health study section for the CETT program, the National Human Genetic Research Institute Fellowship Training Program Board, and the NASA radiation research review panel.
Research & Publications
Research & Publications
Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs
Current strategies for the management of neonatal urea cycle disorders
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 hypoxiainduced 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
Genetic variation in the urea cycle a model resource for investigating key candidate genes for common diseases
Neonatal pulmonary hypertensionureacycle intermediates nitric oxide production and carbamoylphosphate synthetase function
Nitric oxide precursors and congenital heart surgery a randomized controlled trial of oral citrulline
Pharmacokinetics and safety of intravenously administered citrulline in children undergoing congenital heart surgery potential therapy for postoperative pulmonary hypertension
View publications on PubMed