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Elizabeth Bhoj is an Assistant Professor in the Pediatrics Department at the Perelman School of Medicine, University of Pennsylvania. She holds an M.D. from the University of Texas Southwestern Medical Center at Dallas and a Ph.D. in Genetics from the University of Pennsylvania. Bhoj's research focuses on translational genetics, aiming to improve diagnostic and treatment discovery for novel human syndromes. Her expertise includes clinical genetics, molecular genetics, and advanced sequencing technologies such as exome and genome sequencing. Bhoj's lab has been instrumental in identifying genetic variants that contribute to pediatric neurodegenerative conditions and undiagnosed genetic syndromes. By utilizing patient cells and animal models, Bhoj aims to understand the mechanisms causing these disorders and develop targeted therapies. Her work is driven by the desire to provide answers to families dealing with genetic disorders and advance the field of targeted therapeutics. Currently, her lab comprises MSTP students and various research personnel, reflecting a commitment to both research and education in the area of genetics and disease pathology.
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