Sarah Phyllis Young

As an ABMGG-certified clinical biochemical geneticist and Co-Director of the DUHS Biochemical Genetics Laboratory, my research focuses on advancing laboratory diagnostics for rare inherited metabolic disorders. I lead efforts to develop and implement mass spectrometry–based assays to improve the detection, characterization, and monitoring of these conditions in both clinical and research settings. My work has a particular emphasis on biomarker validation for lysosomal disorders, including Pompe disease, Fabry disease, and the mucopolysaccharidoses. Through longitudinal biomarker studies, I contribute to the assessment of disease burden and therapeutic response, including enzyme replacement therapy, gene therapy, and emerging in utero interventions. I am also actively involved in translational research supporting newborn screening and diagnostic algorithms, with the goal of enabling earlier detection and more precise follow-up testing for metabolic diseases.