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.

2017

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.

Weekly Events

Upcoming Events

News

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.

Penn Genetics Celebrates Klaus Kaestner PhD MS, the 20th EASD Albert Renold Prize Recipient

Penn Genetics is proud to celebrate  Professor Klaus Kaestner, named the 2026 recipient of the Albert Renold Prize, in recognition of his outstanding scientific achievements and enduring impact on diabetes research.

Professor Kaestner will present his Albert Renold Prize Lecture at the upcoming EASD Annual Meeting.

Please join us in congratulating Klaus Kaestner on this exceptional honor and international recognition of his contributions to the field of diabetes research!

Kaestner Lab Publishes New Open-Access Article in Nature Communications

The Department of Genetics is pleased to announce that the Kaestner Lab has published a new open-access research article in Nature Communications titled:“Villification of the intestinal epithelium is driven by Foxl1 through activation of PDGFRα and BMPs.”

The article features authors Guoli Zhu and Galina Rozenberg of the Kaestner lab in the Department of Genetics.

Penn Genetics and Neurology Researcher Featured in Science Translational Medicine

New study links gene therapy and dietary stress to liver disease in XLMTM mode.

James J. Dowling MD PhD - Professor of Genetics & Neurology

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Featured Publications

AAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy

James J. Dowling, MD PhD

Complex genetic variation in nearly complete human genomes

Logsdon Lab

Exclusion-based exome sequencing in critically ill adults 18–40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing

Penn Medicine Biobank Team

Hotwired: How the Hidden Power of Heat Makes Us Stronger. Gifford B. (2026).

Yana Kamberov

Interbreeding between Neanderthals and modern humans was strongly sex biased.

Tishkoff Lab

Villification of the intestinal epithelium is driven by Foxl1 through activation of PDGFRα and BMPs.

Kaestner Lab

Go to the Publications Page