Scientists have discovered a potential treatment for late-onset retinal degeneration through gene therapy and metformin – a drug used for diabetes.
Late-onset retinal degeneration is a rare, blinding eye disease. It is a dominantly inherent disorder which can occur if one parent carries and abnormal gene. Symptoms include difficulty seeing in the dark and loss of central vision in people around fifty or sixty. As the degeneration progresses, cells in the retinal pigment epithelium shrink and die, this leads to a loss of photoreceptors which eventually leads to a loss of sight. Investigators were led by Kapil Bharti, Kiyoharu (Josh) Miyagishima and Ruchi Sharma, who developed a new laboratory model that used induced pluripotent stem cells developed from skin to make retinal pigment epithelium. “This new model of a rare eye disease is a terrific example of translational research, where collaboration among clinical and laboratory researchers advances knowledge not by small steps, but by leaps and bounds” Michael F. Chiang, MD, Director of the NEI. “Importantly, we now have two potential strategies to disrupt the L-ORD disease process. While gene therapy may be years away, metformin is a drug that’s long been used to treat diabetes,” Dr. Bharti. Whilst late-onset retinal degeneration is rare, it shares similarities with other retinal degenerations including age-related macular degeneration. This new model may prove useful in understanding other age-related changes in the retinal pigment epithelium.
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December 2022
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