TY - BOOK ID - 134934597 TI - Molecular Therapies for Inherited Retinal Diseases AU - Collin, Rob W.J. AU - Garanto, Alejandro PY - 2020 PB - Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute DB - UniCat KW - induced pluripotent stem cell (iPSC) KW - clustered regularly interspaced short palindromic repeats (CRISPR) KW - homology-directed repair (HDR) KW - Enhanced S-Cone Syndrome (ESCS) KW - NR2E3 KW - AAV KW - retina KW - gene therapy KW - dual AAV KW - gold nanoparticles KW - DNA-wrapped gold nanoparticles KW - ARPE-19 cells KW - retinal pigment epithelium KW - clathrin-coated vesicles KW - endosomal trafficking KW - retinitis pigmentosa KW - autosomal dominant KW - G56R KW - putative dominant negative effect KW - gapmer antisense oligonucleotides KW - allele-specific knockdown KW - Leber congenital amaurosis and allied retinal ciliopathies KW - CEP290 KW - Flanders founder c.4723A > KW - T nonsense mutation KW - Cilia elongation KW - spontaneous nonsense correction KW - AON-mediated exon skipping KW - microRNA KW - photoreceptors KW - rods KW - cones KW - bipolar cells KW - Müller glia KW - retinal inherited disorders KW - retinal degeneration KW - antisense oligonucleotides KW - Stargardt disease KW - inherited retinal diseases KW - splicing modulation KW - RNA therapy KW - ABCA4 KW - iPSC-derived photoreceptor precursor cells KW - cyclic GMP KW - apoptosis KW - necrosis KW - drug delivery systems KW - translational medicine KW - Usher syndrome KW - Leber congenital amaurosis KW - RPE65 KW - nonprofit KW - patient registry KW - translational KW - protein trafficking KW - protein folding KW - protein degradation KW - chaperones KW - chaperonins KW - heat shock response KW - unfolded protein response KW - autophagy KW - therapy KW - IRD KW - DNA therapies KW - RNA therapies KW - compound therapies KW - clinical trials KW - Retinitis Pigmentosa GTPase Regulator KW - adeno-associated viral KW - Retinitis Pigmentosa (RP) KW - choroideremia KW - REP1 KW - inherited retinal disease KW - treatment KW - apical polarity KW - crumbs complex KW - fetal retina KW - PAR complex KW - retinal organoids KW - retinogenesis KW - gene augmentation KW - adeno-associated virus (AAV) KW - n/a KW - Müller glia UR - https://www.unicat.be/uniCat?func=search&query=sysid:134934597 AB - 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 consequences of these defects are rapidly emerging, providing hope for personalized medicine. ‘Classical’ gene augmentation therapy has been under study for several genetic subtypes of IRD and can be considered a safe and sometimes effective therapeutic strategy. The recent market approval of the first retinal gene augmentation therapy product (LuxturnaTM, for individuals with bi-allelic RPE65 mutations) by the FDA has not only demonstrated the potential of this specific approach, but also opened avenues for the development of other strategies. However, every gene—or even every mutation—may need a tailor-made therapeutic approach, in order to obtain the most efficacious strategy with minimal risks associated. In addition to gene augmentation therapy, other subtypes of molecular therapy are currently being designed and/or implemented, including splice modulation, DNA or RNA editing, optogenetics and pharmacological modulation. In addition, the development of proper delivery vectors has gained strong attention, and should not be overlooked when designing and testing a novel therapeutic approach. In this Special Issue, we aim to describe the current state of the art of molecular therapeutics for IRD, and discuss existing and novel therapeutic strategies, from idea to implementation, and from bench to bedside. ER -