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Upstate researcher awarded grant to study retinal diseases

William Spencer, PhD, assistant professor at Upstate Medical University, was awarded a $250,000 grant from the E. Matilda Ziegler Foundation for the Blind to further his research into the role ectosomes play in retinal disease and possible treatments.

Spencer is building off of previous research he’s conducted on Progressive Rod-Cone Degeneration (PRCD).      

“Rod and cone photoreceptor cells are the neurons of the retina that function like the pixels in a camera,” explains Spencer. “They absorb light and generate an electrical response that is transmitted to the brain.  Due to the stress of absorbing light, these membranes get damaged and therefore must be continuously replaced.”

The process of replacing these membranes can sometimes be affected by inherited genetic mutations, causing them to be released outside the cell and accumulate like trash in the retina.

“For unknown reasons, this leads to the death of photoreceptor cells and blindness,” he said. “The goals of this grant are to understand how the light-sensitive membranes are formed normally and, in cases of disease, how the membrane trash could be cleared by the immune system.”

Spencer says this could be the first step in developing future retinal disease treatments.

“One future direction that I am excited about is the role of the immune system in responding to this type of retinal pathology,” he continued. “Immune cells called microglia clear the membranous ‘junk' that accumulates due to these defects in disc formation. Are these immune cells beneficial by removing the debris or do they exacerbate disease while performing this function? Ultimately, I hope my research could lead to novel treatments for these presently incurable and blinding retinal diseases.”     

A better understanding of this process could lead to treatments for diseases like retinitis pigmentosa, cone-rod dystrophy and Leber Congenital Amaurosis; all of which currently cause complete, irreversible, and incurable blindness.

The EMZ Foundation aims to support outstanding investigators at the early stages of their careers who show innovation and promise in vision research.

Spencer is one of the newest researchers to join SUNY Upstate’s Center for Vision Research. You can read more about his work or contact him about joining his lab here.