Drs. J. Bennett and K. Uyhazi | University of Pennsylvania
Gene Therapy Approach with Retinal Pigmented Epithelium
Research Summary
Drs. Jean Bennett and Katherine Uyhazi Center for Advanced Retinal and Ocular Therapeutics (CAROT), University of Pennsylvania
November 2020 | $150,000
In the fall of 2020, Conquering Gyrate Atrophy awarded $100,000 to the Center for Advanced Retinal and Ocular Therapeutics (CAROT) at the University of Pennsylvania to support research towards developing gene therapy to slow and/or reverse the progression of gyrate atrophy. The research will test the possibility of halting or reversing disease progression through a one-time delivery of the correct copy of the human OAT gene to the retinal pigmented epithelium (RPE) in animal models.
In August 2021, Conquering Gyrate Atrophy awarded a grant of $50,000 for additional support for this research. On December 8, 2021, Drs. Jean Bennett and Katherine Uyhazi spoke to the gyrate atrophy community about their research on gyrate atrophy and the research trends they are seeing for inherited retinal diseases. You can watch the full recording below.
In February 2023, Conquering Gyrate Atrophy awarded a grant of $50,000 for additional support for this research.
Results
Some results were shared at the 2024 ARVO conference. Conclusions are below and see the full abstact here.
GA-iPSCs have decreased viability upon orthinine exposure compared to wildtype iPSCs, which is robustly rescued by delivery of AAV2-hOAT. Together, these data provide pre-clinical evidence for the efficacy of gene replacement therapy in an in vitro model of gyrate atrophy and support future investigations of GA-iPSC derived retinal pigment epithelial cells and in vivo models of the disease.
Researcher Profiles
Dr. Bennett is a physician-scientist with expertise in molecular biology, vector development and gene therapy translational studies. She has established a true “from bench to bedside” program, and was the scientific leader of a team that translated reversal of blindness in animal models to demonstration of efficacy and safety in children and adults. This work led to the first and only approved gene therapy for inherited disease in USA and in Europe and the first approved gene therapy product targeting a retinal disease worldwide.
Dr. Uyhazi received her B.S. from The College of New Jersey, summa cum laude, and her MD/PhD from Yale School of Medicine with her PhD in Cell Biology. She completed her residency in ophthalmology and her fellowship in retinal degenerations at the Scheie Eye Institute at the University of Pennsylvania. She is currently an Assistant Professor of Ophthalmology at Penn where she has a clinical practice for inherited retinal diseases and also runs a lab focused on developing new gene therapy and stem cell therapies for retinal diseases.
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