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Figure: Treatment of patient-derived retinal organoids using AAV-NPHP5 restores rhodopsin localization
Image credit: Dr.
Researchers at the National Eye Institute (NEI) have developed a gene therapy that could rescue a defect
"It's sad
LCA is a rare genetic disorder that causes degeneration
Three postdoctoral researchers, Dr.
In a healthy retina, the outer segment of the photoreceptors contains a photoreceptor molecule
In healthy eyes, the NPHP5 protein is thought to be a portal-like structure located at the base of the primary cilia, helping to filter the proteins
In the current study, the researchers found a decrease in levels of the NPHP5 protein in patient-derived retinal organoid cells, as well as a decrease in levels of another protein called CEP-290, which interacts with NPP5 to form the primary ciliary cell phylum
When the researchers introduced an adeno-associated virus (AAV) vector that contained a functional version of NPRP5 as a vector for gene therapy, retinoid organs exhibited significant recovery
