Duke University Hospital Program

Program Identity & Fit

Duke's Medical Genetics and Genomics program is embedded within a nationally prominent academic Division of Medical Genetics whose identity is built around lysosomal storage disease and glycogen storage disease research, particularly the Pompe disease program that produced Myozyme, an FDA-approved enzyme replacement therapy. The clinical environment spans ten subspecialty clinics (metabolic, biochemical, cardiovascular genetics, 22q11 deletion, Fragile X, Marfan, Down syndrome, autism/genetics) supported by an in-house Mass Spectrometry and Glycogen Storage Disease laboratory, giving trainees exposure to translational bench-to-bedside diagnostics alongside direct patient care. Research is not peripheral but foundational to the division's identity, spanning gene therapy, enzyme replacement therapy, newborn screening, and natural history studies of rare metabolic and lysosomal disorders, with named research infrastructure (Alice and YT Chen Pediatric Genetics and Genomics Research Center) and physician-scientist pathways (Duke Pediatric Research Scholars Program) reinforcing an academic and investigative trajectory. The program values trainees oriented toward biochemical/metabolic genetics subspecialization and translational research rather than solely diagnostic clinical genetics.