Preclinical Studies on Specific Gene Therapy for Recessive Retinal Degenerative Diseases
Inherited retinal diseases are non-lethal and have a wide level of genetic heterogeneity. Many of the genes involved have now been identified and their function elucidated, providing a major step towards the development of genebased treatments. The most widely used vectors for ocular gene delivery are based on adeno-associated virus (AAV) because they mediate long-term transgene expression in a variety of retinal cell types and elicit minimal immune responses. Extensive preclinical evaluation of gene transfer strategies in small and large animal models is key to the development of successful gene-based therapies for the retina. These preclinical studies have already allowed the field to reach the point where gene therapy to treat inherited blindness has been brought to clinical trial. In this manuscript, we focus on recombinant AAV-mediated specific gene therapy for recessive retinal degenerative diseases we describe the preclinical studies for the treatment of retinal degeneration caused by retinal pigmented epithelium cells or photoreceptor defects and the immune response induced by retinal rAAV gene transfer.
Keywords: Inherited retinal diseases, retina, gene therapy, recombinant AAV, animal models, RPE, photoreceptors, genetic heterogeneity, adeno-associated virus, retinal pigmented epithelium cells, photoreceptor, gene transfer, rod-cone dystrophies, Retinitis pigmentosa, cone-rod dystrophies and cone dystrophies, Leber congenital amaurosis, LCA, early onset severe retinal dystrophy, EOSRD, stationary cone dysfunction disorder achromatopsia, retinoschisis, retinal circuits, Star-gardt disease, albinism, RETINAL DEGENERATION, LRAT, MERTK, GPR143, TYR, RPE65, chicken beta actin, Melanin Synthesis, ocular albinism type 1, OCA1, Phototransduction, PDE6ß, molooney leukemia virus, GNAT2, CNGB3, ciliary neurotrophic factor, GUCY2D, retinal guanylate cyclase 1, AIPL1, ABCA4, Stargardt disease, fundus flavimaculatus, RPGR, RPGRIP1, Peripherin2, rhodopsin promoter, Rs1h, retino-schisin, chamber-associated immune deviation, ACAID
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