Researchers at the National Eye Institute (NEI), part of the National Institutes of Health, have developed a gene therapy that rescues cilia defects in retinal cells affected by a type of Leber congenital amaurosis (LCA), a disease that causes blindness in early childhood. Using patient-derived retina organoids – retinas-in-a-dish – the researchers discovered that a type of LCA caused by mutations in the NPHP5 (also called IQCB1) gene leads to severe defects in the primary cilium, a structure found in nearly all cells of the body. Their in vitro findings shed light on the function of NPHP5 protein in the primary cilium, but also led to a potential treatment for this blinding condition. The team developed an adeno-associated virus (AAV)-mediated IQCB1/NPHP5 gene augmentation therapy that ameliorated disease phenotype in NPHP5-LC retinal organoids.
