Innovation
Research in the Department spans a broad spectrum of cutting-edge genetics, encompassing global genomics, evolution of complex traits, single-cell multiomics, precision gene editing, and mechanisms of epigenetic inheritance, among others.
Passion
Our faculty, trainees, and staff are united by an enduring curiosity about the fundamental principles of life and a relentless drive to uncover the genetic underpinnings of health and disease.
Collaboration
Scientific discovery in the Department is deeply collaborative by design. Faculty partner across disciplines with leading experts in medicine, computational biology, engineering, and public health to tackle the most complex questions in genetics.
Impact
Our labs combine advanced technologies with biological insights to accelerate the translation of genetic knowledge in precision medicine, enhance genomic diagnostics, and train future leaders in genomic science.
Message from the Chair: Daniel J. Rader, M.D.
Welcome to the Department of Genetics at the Perelman School of Medicine (PSOM) at the University of Pennsylvania. Our 35 primary faculty members conduct cutting-edge research across a broad spectrum of genetics and genomics, including human genetics, evolutionary and population genetics, epigenetics, functional genomics, experimental model systems, RNA biology, and computational and statistical genomics. Our research ranges from fundamental biological discovery to genomic medicine and translational therapeutics. As the central hub for genetics and genomics research on campus, the Department maintains strong collaborations with clinical departments and numerous Centers and Institutes across PSOM and the University. We also provide administrative oversight for several core facilities that support research laboratories throughout the School of Medicine and affiliated institutions. Additionally, the Department plays a vital role in educating medical and graduate students, as well as training the next generation of genomic scientists.
News
New Publication from Dong Li, PhD
Researchers from Penn Genetics and an international team of collaborators have identified DMAP1 as a new gene responsible for a syndromic neurodevelopmental disorder. Studying 20 patients from 16 families worldwide, the team found that biallelic variants in DMAP1, a protein involved in DNA methylation and chromatin remodeling, cause developmental delay, intellectual disability, seizures, hypotonia, and distinctive facial features. Using fruit flies to model the human variants, the researchers showed that DMAP1 is essential for brain development and identified two downstream target genes, Cbl and SF1, that may offer future therapeutic targets. The team also developed a DNA methylation "fingerprint" (episignature) that successfully diagnosed a previously unresolved patient, demonstrating a new tool for identifying this condition in the clinic.
New Publication from the Grant Lab!
Congratulations to the Grant Lab and collaborators on their new publication in Genome Research,“Cross-species variant-to-function analyses implicate MEIS1 in conferring sleep abnormalities and impaired cerebellar development.” Using a cross-species approach that combined human genetic data with functional studies in zebrafish, the team identified MEIS1 as a key regulator of sleep maintenance and cerebellar development. The findings provide important biological insight into how genetic variants associated with insomnia influence sleep behavior and demonstrate the power of vertebrate models for validating genes identified through human genome-wide association studies.
Study Suggests Ménière’s Disease May Originate in Early Inner Ear Development
Researchers from Penn Medicine have uncovered the first clear biological roadmap pointing to how Ménière’s disease, a chronic and often unpredictable inner ear disorder, may begin much earlier than previously thought. The study suggests that subtle disruptions during early inner ear development could set the stage for the condition later in life, offering new insight into its underlying causes. This breakthrough not only deepens scientific understanding of a poorly understood disease but also opens potential pathways for earlier diagnosis and more targeted treatments in the future.
Announcing the New Director of the Lurie Autism Institute
We are pleased to announce the appointment of Eric M. Morrow, MD, PhD, as Founding Director of the Lurie Autism Institute (LAI), a collaboration between Penn Medicine and CHOP. Beginning September 1, 2026, Dr. Morrow will lead the Institute’s mission to advance groundbreaking autism research and care across the lifespan.