The PRPH2 Mutation Research Project is now in its fourth year led by Shyamanga Borooah, MD, PhD, and Radha Ayyagari, PhD, with funding from the Nixon Visions Foundation led by philanthropists Janine and Brandon Nixon.

Started in 2021, this initiative focuses on a gene called PRPH2. This gene helps make a protein in the retina— the back part of the eye that helps us see light and color. When this gene doesn’t work right, it can cause early macular degeneration, which leads to loss of central vision over time. The scientists are using stem cells to study the disease and hope to find ways to diagnose it early and possibly cure it in the future.

Borooah’s team is looking at how this disease progresses by studying changes in patients’ eyes over time. They found that people with this gene mutation have thinner retinas—a clue that could translate lab findings into future clinical treatments. The team is collecting patient data to train AI to track retinal volume changes leading to developing new treatments for inherited eye diseases. They have just started a clinical trial testing a “first of its kind” treatment targeting the PRPH2 mutation.

Ayyagari’s team is studying how the gene mutation affects different cells in the retina using animal models. They are trying to understand which changes in the eye cause the disease to get worse. Most recently, the team is working towards creating therapeutic studies utilizing and evaluating gene editing and noting changes in the models.

In collaboration, both teams are investigating ways to slow down the disease, discover potential personalized treatments and protect vision for people with PRPH2 gene mutations as well as other inherited retinal degenerations.