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Sarah Phyllis Young

Professor of Pediatrics
Pediatrics, Medical Genetics
Box 103856, Durham, NC 27710
801 Capitola Drive, Suite 6, Durham, NC 27713

Overview


As a clinical biochemical geneticist and a director of the Duke Biochemical Genetics laboratory, my research interests are focused on improving laboratory diagnostics for rare inherited disorders of metabolism. I am actively involved in the development of assays using mass spectrometry and other analytical techniques. My current research on biomarkers for lysosomal storage disorders, such as Fabry and Pompe disease and the mucopolysaccharidoses includes monitoring the response to novel therapies in patients. I also have an interest in neurometabolic disorders such as the creatine deficiency syndromes and sulfite oxidase and molybdenum cofactors. These disorders can be diagnosed using liquid chromatography-tandem mass spectrometric assays that measure biomarkers in urine. Guanidinoacetate methyltransferase deficiency is a disorder that can be detected in the newborn period and is amenable to dietary therapy, and is thus a good candidate for newborn screening.

Current Appointments & Affiliations


Professor of Pediatrics · 2021 - Present Pediatrics, Medical Genetics, Pediatrics

Education, Training & Certifications


Institute of Child Health (India) · 1997 Ph.D.