Dr. Kishnani completed her Pediatric Residency and Clinical and Biochemical Genetics Fellowship at Duke, then joined the Duke faculty in July 1995. She is certified by the American Board of Medical Genetics and the American Board of Biochemical Genetics.
The translation of laboratory science into the clinical arena, especially in the area of such therapeutic interventions as enzyme replacement therapy and small molecules, is her primary focus. The care, treatment and natural history of individuals with Lysosomal Storage Disorders, Glycogen Storage Diseases, Down syndrome and other inborn errors of metabolism are her areas of interest. She has a long-standing research and clinical interest in Pompe Disease and, along with Dr. Y. T. Chen, was instrumental in getting FDA approval for Myozyme, the first treatment for this disorder in 2006. In other areas of translational medicine, Dr. Kishnani has been very involved in starting the first prescription drug trials with cholinesterase inhibitors in individuals with Down syndrome to enhance cognition. Designing clinical trials for rare diseases is an area of expertise of hers.
Dr. Kishnani is the author of numerous peer reviewed publications on metabolic disorders. She serves on the International Pompe Disease Registry Board, US Regional Gaucher Registry Board and is the Chairperson of the Association for Glycogen Storage Disease. She is also a member of the Down Syndrome Medical Interest group.