Researchers at the University of Pennsylvania’s School of Veterinary Medicine have made a breakthrough in treating advanced inherited retinal degeneration, a genetic condition that causes vision loss. This new development fills a gap in current treatment options for patients with late-stage disease.
The team was led by ophthalmology experts Raghavi Sudharsan and William Beltran, who designed four gene therapy promoters specifically aimed at advanced retinal degeneration. This work builds on Beltran’s earlier research involving stem cell therapies for vision restoration.
Inherited retinal degenerations affect the retina’s photoreceptors, the cells responsible for sensing light. These disorders are caused by mutations in more than 250 different genes, and currently, no cures or drug treatments exist. Gene therapy remains the only viable approach to help these patients.
The researchers used GNGT2-based promoters that naturally activate in the human eye, improving the safety and effectiveness of the treatment. Their experiments involved dogs, carefully cared for by veterinarians throughout the study.
“These animals receive the same care and affection as pets,” Sudharsan emphasized.
The project, a collaboration between Penn Vet and the University of Pittsburgh, has been underway for eight years. Since publishing their findings, Penn has filed a provisional patent for the new technology.
Beltran highlighted the significance of testing the promoters in real disease models rather than in cell cultures. He explained that this approach ensures therapies are more precise and better suited to meet the clinical needs of patients with inherited retinal degeneration, both humans and animals.
Sudharsan, who has worked closely with Beltran since 2012, described their partnership as a supportive, family-like environment. After completing her training, she accepted a position as research assistant professor at Penn, continuing their shared mission to advance gene therapy for vision loss.
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