Priya S. Kishnani

Duke University Medical Center, USA

Priya S. Kishnani, MD
C.L. and Su Chen Professor of Pediatrics
Department of Pediatrics, Division of Medical Genetics
Duke University Medical Center
Durham, North Carolina

Priya S. Kishnani, MD, is chief of the Division of Medical Genetics, Department of Pediatrics, at Duke University Medical Center in Durham, North Carolina, and director of its YT and Alice Chen Center for Genomic Research. She holds certification from the American Board of Medical Genetics and the American Board of Biochemical Genetics. She began her medical education in Bombay, India, followed by a residency and 2 fellowship programs at Duke University. Dr Kishnani’s primary focus has been the translation of laboratory science into the clinical arena.

She has a long-standing research and clinical interest in Pompe disease, and was the lead investigator for the pivotal trials of Pompe disease and responsible for the clinical translation from the bench, which led to FDA approval of Myozyme™ (2006)/Lumizyme™ (2010) as the first treatments for Pompe disease. Dr Kishnani continues to investigate the natural history of Pompe disease, uncovering several long-term complications, among them speech and swallowing dysfunction, cardiac arrhythmias, vascular involvement, sleep and gait disturbances, CNS involvement and small fiber neuropathy. She and the Duke team played an integral role in the nomination and approval for the addition of Pompe disease to the RUSP (Recommended Uniform Screening Panel) for newborn screening in the United States.