Biography

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. Dr. Kishnani has a long-standing research and clinical interest in inborn errors of metabolism, with a focus on Lysosomal Storage Disorders (LSDs) and Glycogen Storage Disorders. She 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 the first treatments for Pompe disease. Dr. Kishnani’s contributions to the Gaucher disease literature have focused on characterizing the natural history and developing treatment and disease monitoring approaches, including genotype-phenotype correlations, long-term complications such as skeletal abnormalities, liver involvement and neuronopathic manifestations, as well as the role of biomarkers and alternative dosing strategies. Her contributions also include the development of consensus guidelines for the diagnosis and management of Gaucher disease and other LSDs. Dr. Kishnani has extensive experience in the clinical care of patients across the Gaucher disease continuum, and serves as a member of the International Collaborative Gaucher Group Gaucher Registry.

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