Molecular Therapies for Inherited Retinal Diseases

• Other Authors: Collin, Rob W.J (Editor), Garanto, Alejandro (Editor)
• Format: Electronic Book Chapter
• Language: English
• Published: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2020
• Subjects: Research & information: general; Biology, life sciences; induced pluripotent stem cell (iPSC); clustered regularly interspaced short palindromic repeats (CRISPR); homology-directed repair (HDR); Enhanced S-Cone Syndrome (ESCS); NR2E3; AAV; retina; gene therapy; dual AAV; gold nanoparticles; DNA-wrapped gold nanoparticles; ARPE-19 cells; retinal pigment epithelium; clathrin-coated vesicles; endosomal trafficking; retinitis pigmentosa; autosomal dominant; G56R; putative dominant negative effect; gapmer antisense oligonucleotides; allele-specific knockdown; Leber congenital amaurosis and allied retinal ciliopathies; CEP290; Flanders founder c.4723A > T nonsense mutation; Cilia elongation; spontaneous nonsense correction; AON-mediated exon skipping; microRNA; photoreceptors; rods; cones; bipolar cells; Müller glia; retinal inherited disorders; retinal degeneration; antisense oligonucleotides; Stargardt disease; inherited retinal diseases; splicing modulation; RNA therapy; ABCA4; iPSC-derived photoreceptor precursor cells; cyclic GMP; apoptosis; necrosis; drug delivery systems; translational medicine; Usher syndrome; Leber congenital amaurosis; RPE65; nonprofit; patient registry; translational; protein trafficking; protein folding; protein degradation; chaperones; chaperonins; heat shock response; unfolded protein response; autophagy; therapy; IRD; DNA therapies; RNA therapies; compound therapies; clinical trials; Retinitis Pigmentosa GTPase Regulator; adeno-associated viral; Retinitis Pigmentosa (RP); choroideremia; REP1; inherited retinal disease; treatment; apical polarity; crumbs complex; fetal retina; PAR complex; retinal organoids; retinogenesis; gene augmentation; adeno-associated virus (AAV); n/a
• Online Access: DOAB: download the publication; DOAB: description of the publication

Following the implementation of next-generation sequencing technologies (e.g., exome and genome sequencing) in molecular diagnostics, the majority of genetic defects underlying inherited retinal disease (IRD) can readily be identified. In parallel, opportunities to counteract the molecular consequen...