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.
Genetics and Metabolism Division Chief, Marshall Summar, MD, lays out the basics of newborn screening, work-ups, and testing.
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