Priya Kishnani, MD

Priya Kishnani, MD
C.L. and Sue Chen Professor of Pediatrics
Division Chief, Medical Genetics
Duke University Medical Center
595 Lasalle Street, GSRB 1
4th Floor, Room 4010
Durham, NC 27710
Phone: (919) 684-2036

Dr. Kishnani’s Career

Dr. Kishnani moved to the United States in 1991 after completing a residency in pediatrics in Mumbai, India. She completed a fellowship in clinical and biochemical genetics at Duke University Medical Center (DUMC) in 1995 and shortly thereafter joined the faculty at Duke University.

Dr. Kishnani is certified by the American Board of Medical Genetics and the American Board of Biochemical Genetics. Dr. Kishnani is chief of the medical genetics division and director of the Alice and YT Chen Pediatric Genetics and Genomics Center. Part of Duke University Medical Center, the center focuses on developing new therapies for rare genetic disorders. She also serves as director of the lysosomal storage disease program, biochemical genetics training program, and metabolic clinic at DUMC.

Dr. Kishnani’s Research Focus

Dr. Kishnani’s work applies basic science discoveries to clinical trials and pioneering approval of new therapies. Her innovative contributions translate laboratory science into treatment for people with lysosomal storage disorders (LSDs), glycogen storage diseases (GSDs), Down syndrome and other inherited disorders.

Dr. Kishnani has been a lead investigator on several clinical trials for developing new drugs involving enzyme replacement therapy and small molecules. Her work is widely published in scientific journals and textbooks on areas including treatment, long-term complications and clinical trial results.

The care, treatment and natural history of individuals with LSDs, including Gaucher disease, remain Dr. Kishnani’s passions. She emphasizes continuous care for chronic conditions using a team approach, consulting U.S. and international patients as well as medical colleagues in India.

Dr. Kishnani collaborates on the International Collaborative Gaucher Group (ICGG) Gaucher Registry, the largest ongoing international database that tracks patients with Gaucher disease. She is also a member of the North American Gaucher Registry Board. Her current interests include investigating the natural history of neurological Gaucher disease and long-term complications such as liver involvement.

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