Pediatric Specialties — Genetics
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Research And Education

Research
Among the division's current research pursuits, Dr. Galvin-Parton is involved in a study of the use of biopterin in patients with phenylketonuria (PKU). In 2007 Stony Brook became part of an expanded access program for biopterin, a vitamin supplement that has shown promise for PKU. We also are developing a double-blind clinical study of patients who may not respond to biopterin in terms of lowering their phenylalanine level but report feeling better and being able to concentrate better.

Dr. McGovern has recently completed a Phase I clinical trial of enzyme replacement for Niemann Pick disease Type B. Dr. Ozturk Monteleone is currently involved in the writing of protocols and grants to be used by the Cancer Center’s Multidisciplinary Practice.

Education
Division faculty teach medical students and residents through the Stony Brook University School of Medicine. Education of patients, parents and the community is ongoing. Dr. Galvin-Parton has conducted classes on genetics testing for the Stony Brook Mini Medical School.