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Sarah Phyllis Young is a clinical biochemical geneticist and professor of Pediatrics and Medical Genetics at Duke University. She serves as the director of the Duke Biochemical Genetics laboratory. Her research interests focus on enhancing laboratory diagnostics for rare inherited metabolic disorders. Young is actively involved in developing assays using mass spectrometry analytical techniques, with current research concentrated on biomarkers for lysosomal storage disorders, including Fabry disease, Pompe disease, and mucopolysaccharidoses. She also studies neurometabolic disorders such as creatine deficiency syndromes and sulfite oxidase deficiencies, utilizing liquid chromatography-tandem mass spectrometric assays to measure biomarkers in urine. Her pioneering work includes evaluating guanidinoacetate methyltransferase deficiency as a disorder detectable at birth and which is amenable to dietary intervention. Young has contributed significantly to the field through various grants for gene therapies and biomarkers research.
Duke University • Durham, NC
Professor of Pediatrics and Medical Genetics, Director of the Duke Biochemical Genetics laboratory.
Department of Biomedical Engineering (MS program)