Duke Retinal Researchers Identify a Previously Undetected Form of CRB1 Unexpected Findings Could Lead to Future Gene Therapy for Patients Battling Retinal Degeneration BY VICKI FRYE
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s often happens in medical research, a recent study intended to better understand the complexities of the central nervous system (CNS) resulted, as well, in surprising and extraordinary learnings that are already delivering hope to patients suffering with inherited retinal degenerative diseases caused by mutations in the CRB1 gene.
DUKE EYE CENTER
2021
In a recent paper, published by Nature Communicatons1, Jeremy Kay, PhD, associate professor of neurobiology and associate professor in ophthalmology, detailed a new method for identifying the mRNA isoforms produced by individual genes. Their study revealed that as many as 90% of CNS isoforms were previously unknown and overlooked by scientists as they try to understand gene function.
Jeremy Kay, PhD
In this case, the team chose to study the development of the retina as an illustrative example of the intricacies of the “wiring” and complicated processing performed by the CNS. While it is a simpler system, the retina is built much like other parts of the brain: its cells come together in circuits to process light, just as the brain is designed to process other kinds of complex signals. In their research, the team was working to survey which proteins were present on the developing retinal cells. They were particularly interested in cataloguing protein isoforms, which are subtle variations in protein structure that can change how proteins work. While they didn’t set out to study CRB1, they knew it was present in the developing retina and that it fit their study criteria. In truth, it was the only
