Douglas J. Epstein

Douglas J. Epstein is a Professor of Genetics and serves as Vice Chair in the Department of Genetics at the Perelman School of Medicine, University of Pennsylvania. His academic journey began with a B.Sc. from McGill University in 1986, followed by an MSc. in 1989, and culminated with a Ph.D. from McGill University in 1993. He completed postdoctoral training in Developmental Genetics at Harvard University (1993-1995) and the Skirball Institute of Biomolecular Medicine, New York University School of Medicine (1995-1998).

Dr. Epstein's research focuses on two major interconnected themes: gene regulation during brain development and the genetic basis of inner ear morphogenesis. His laboratory employs sophisticated mouse models to investigate mechanisms underlying human congenital disorders, particularly brain malformations and hearing loss. His work on Sonic hedgehog (Shh) gene regulation has revealed critical insights into enhancer redundancy, 3D folding dynamics of the locus in the developing brain, thalamic development and function, and neural circuits involved in neurodevelopmental disorders. In the realm of auditory research, his lab leverages whole exomes linked to electronic health records in the Penn Medicine Biobank and collaborates with the Penn Center for Adult Onset Hearing Loss to unravel the genetic architecture of both congenital and adult-onset hearing loss.

His publication record demonstrates a strong focus on developmental genetics, with recent work spanning from fundamental mechanisms of gene regulation to clinical applications in hearing loss. The research trends in his publications show increasing integration of genomic approaches with traditional developmental biology techniques, particularly in understanding the genetic basis of hearing disorders across the lifespan.

Dr. Epstein actively mentors graduate students and postdoctoral fellows, currently supervising Jailynn Harke (Graduate Student), Tingfang Chen (Postdoctoral Fellow), Paraskevi Sgourdou (Postdoctoral Fellow), and others in his laboratory team.