WVU research team working to restore sight lost to genetic eye disease

(Press-News.org) A research team at the WVU is studying how to restore vision in people who develop a form of inherited blindness.

Visvanathan Ramamurthy, professor and chair of the Department of Biochemistry and Molecular Medicine and vice chair of research in the Department of Ophthalmology and Visual Sciences at the WVU School of Medicine, is leading this multidisciplinary study alongside a group of scientists and clinicians at WVU.

The study is supported by a three-year $1.4 million grant from the National Eye Institute, part of the National Institutes of Health.

Inherited blindness results from mutations in particular genes that disrupt vision. In this case, the team is focusing on mutations in the Prominin1, or PROM1 gene, which encodes a protein expressed throughout the body. While approximately 50 distinct PROM1 mutations have been identified as drivers of vision loss, a significant therapeutic gap remains. 

“We see patients at the WVU Eye Institute who carry these mutations, and right now there is no treatment to stop or reverse their vision loss,” Ramamurthy said. “When a patient’s sight is at risk, the focus of our team is on bridging this critical unmet need with a transformative treatment.”

Ramamurthy’s team is utilizing a mouse model of the disease to deliver functional genetic material via a harmless viral vector injected into the back of the eye. Working with medical and doctoral student George Holmes and postdoctoral researcher Sila Niedoba, the team has observed encouraging early results in mouse models. Their findings to date indicate that a single injection can preserve or even restore vision for at least a year. 

“That one-year window in mice is significant,” Ramamurthy explained. “It suggests the potential for a much longer period of effectiveness when translated to human patients.”

Beyond initial restoration, the team is investigating whether this therapy remains effective once the disease has progressed, a critical factor for clinical application.

“Most patients do not seek treatment at the earliest stage of the disease,” Ramamurthy said. “We want to learn if therapy can still provide a benefit in the middle or even later stages of vision loss.” 

Contributing to the research are Wen Tao Deng, assistant professor in the Departments of Ophthalmology and Visual Sciences and Biochemistry and Molecular Medicine, and Peter Stoilov, professor in the Department of Biochemistry and Molecular Medicine.

“Our lab has studied inherited blindness for nearly 20 years,” Ramamurthy said. “Now, our focus is on translating these laboratory successes into clinical realities for our patients.”

The research comes at a pivotal time for the University. The planned expansion of the WVU Eye Institute, slated for completion in late 2027, is expected to provide additional infrastructure to translate these laboratory successes into human clinical trials.

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