Empowering patients through expanded access to accurate and timely genetic diagnosis.
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PNTC: Transforming neurogenetic clinical care
through groundbreaking translational research.
Neurodiagnostics
Translational Research
Advancing the future of neurogenetic medicine through the development of novel therapeutics.
Clinical Research
Driving innovation in neurogenetics through observational studies and interventional trials of genetic therapies.
Clinical Implementation
Transforming care by leveraging Penn infrastructure to rapidly and safely deliver newly licensed genetic therapies to patients.
Education
Fostering genetic literacy and therapeutic knowledge to prepare patients and providers for the future of genetic medicine.
News
Congratulations to Laynie Dratch, SCM, LCGC on receiving the University of Pennsylvania MSGC Program’s 2026 Outstanding Clinical Supervisor Award!
News
A big congratulations to Genetic Counselor Rachel Paul on contributing to a newly published study in Oxford Academic’s Brain.
News
An exciting moment for Penn Medicine Against ALS today; we are incredibly proud to announce that we have been named a Discovery Award Winner in the #LongitudePrizeonALS!
News
PNTC is excited to announce that center director Dr. Jim Dowling, MD, PhD was the recipient of the Sidney Carter Award in Child Neurology at the 2026 American Academy of Neurology (AAN).
News
The neurogenetics team at Penn has reached a major milestone: 5,000 patients served!
News
Defne Amado, MD, PhD has received a Career Development Award from the American Society for Gene and Cell Therapy (ASGCT)!
Award Win!
PNTC director Jim Dowling, MD, PhD was the recipient of the Sidney Carter Award in Child Neurology at the 2026 American Academy of Neurology (AAN) meeting.
New Team Member!
Join us in welcoming Kristin Brown to the Penn Neurogenetics Therapy Center!
Award Win!
Penn Medicine Against ALS was named a Discovery Award Winner in the Longitude Prize on ALS!