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Science Matters

Pragna Patel, Ph.D.

Professor of Biochemistry and Molecular Biology, Institute for Genetic Medicine, Keck School of Medicine, University of Southern California

Ph.D., biochemistry, West Virginia University

B.Sc., Mount Carmel College, Bangalore, India

Internationally renowned human geneticist, Pragna Patel is a Professor in the Institute for Genetic Medicine at the University of Southern California in Los Angeles. She is a Professor of Biochemistry and Molecular Biology at USC’s Keck School of Medicine and at the USC School of Dentistry. Dr. Patel was a member of the faculty at Baylor College of Medicine in Houston from 1987 through 2003. For two decades now, she has passionately pursued gene discovery for a number of inherited disorders. Her laboratory played a major role in the discovery of unprecedented mechanisms for Charcot-Marie-Tooth disease type 1A, which is the most common inherited neuropathy, and for Friedreich ataxia, a devastating neurological disorder that afflicts children in the first decade of life. These studies led to the development of DNA-based tests for these diseases, thereby enabling easier diagnosis of these conditions. These discoveries as well as her many contributions to the genetics of other human disorders have repeatedly brought her laboratory international acclaim. Besides contributing to the discovery of disease genes, her laboratory has also contributed to an understanding of how the genes are normally regulated using cell culture and animal models, and is interested in developing therapies for these diseases. She developed an interest in the population genetics of Indians in 2003 given the dearth of large-scale studies on Indians. She doggedly pursued her interest which enabled the collection and analysis of over 700 Indian DNA samples. The analysis of these samples has laid the foundation for studying the genetics of common diseases such as the growing epidemic of heart disease in Indians which her laboratory is currently pursuing. She has published 105 articles, with 85 of them in peer-reviewed journals, many of which are top tier journals.

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