Author: Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist

Dr. Priya S. Kishnani, MD, is an internationally recognized pediatric geneticist whose career has transformed care for children and adults with rare metabolic diseases, especially Pompe disease. She serves as Chief of the Division of Medical Genetics at Duke University Medical Center and holds the Chen Family (C.L. and Su Chen) Distinguished Professorship of Pediatrics, with a secondary appointment in Molecular Genetics and Microbiology and roles in Duke’s Clinical Research Institute and Innovation & Entrepreneurship program.

Born and raised in Bombay (Mumbai), India, she earned her MBBS from the University of Bombay, completed pediatric residency training in Mumbai, then moved to the United States in 1991 to undertake additional pediatric residency at Duke, followed by a fellowship in clinical and biochemical genetics, after which she joined the Duke faculty in 1995.  Over three decades at Duke, Kishnani has led translational research programs in lysosomal storage disorders (LSDs) and glycogen storage diseases (GSDs), building multidisciplinary teams that connect laboratory discoveries to first-in-human trials and everyday patient care.

She was the lead investigator in the pivotal international studies of alglucosidase alfa (Myozyme/Lumizyme) for Pompe disease, guiding the bench-to-bedside path that culminated in the first FDA and EMA approvals for this condition and establishing modern standards of diagnosis and management. Her work has continued to push boundaries—expanding newborn screening, advancing next-generation ERT strategies, and participating in landmark efforts such as the first reported in-utero enzyme replacement therapy for infantile-onset Pompe disease.

A prolific scholar and mentor, she has authored influential guidelines and high-impact publications that shape clinical practice, while directing major clinical programs including the Y.T. and Alice Chen Pediatrics Genetics and Genomics Center at Duke. In recognition of her scientific leadership and patient-centered innovation, Kishnani received the 2022 North Carolina Award for Science, the state’s highest civilian honor, and Duke’s Distinguished Faculty Award, reflecting a career defined by rigorous science, compassionate care, and training the next generation of clinician-scientists.