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Dr. Elizabeth Bhoj is an Assistant Professor in the Department of Genetics at the Perelman School of Medicine, University of Pennsylvania. She specializes in pediatric genetics and has made significant contributions to the understanding of genetic disorders, particularly those presenting in children. Her research focuses on translational genetics, improving diagnostic methods and treatment strategies for novel human syndromes. Bhoj's lab utilizes advanced sequencing technologies to identify previously undiagnosed genetic conditions and is particularly interested in the role of histones and specific kinases in neurodevelopmental disorders. Her team has worked extensively on understanding the mechanisms underlying these genetic syndromes and has incorporated various model systems, including patient cells and animal models, to study the pathogenesis of these disorders. Bhoj has published extensively in leading journals, contributing valuable insights into the genetics of pediatric conditions and the development of targeted therapies. Her commitment to bridging basic science with translational research has positioned her as a leader in the field of human genetics, with an aim to develop precise therapeutic interventions for patients suffering from rare genetic disorders.
Perelman School of Medicine, University of Pennsylvania • Philadelphia, PA
Assistant Professor specializing in pediatric genetics, focusing on the discovery of genetic syndromes.
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