Reprint
Molecular Therapies for Inherited Retinal Diseases
Edited by
October 2020
262 pages
- ISBN978-3-03943-176-2 (Hardback)
- ISBN978-3-03943-177-9 (PDF)
This book is a reprint of the Special Issue Molecular Therapies for Inherited Retinal Diseases that was published in
Biology & Life Sciences
Summary
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.
Format
- Hardback
License
© 2020 by the authors; CC BY-NC-ND license
Keywords
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; gene therapy; gold nanoparticles; DNA-wrapped gold nanoparticles; ARPE-19 cells; retinal pigment epithelium; clathrin-coated vesicles; endosomal trafficking; retinitis pigmentosa; autosomal dominant; NR2E3; 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; retina; photoreceptors; rods; cones; bipolar cells; Müller glia; retinal inherited disorders; retinitis pigmentosa; retinal degeneration; antisense oligonucleotides; Stargardt disease; inherited retinal diseases; splicing modulation; RNA therapy; ABCA4; iPSC-derived photoreceptor precursor cells; retina; cyclic GMP; apoptosis; necrosis; drug delivery systems; translational medicine; retinitis pigmentosa; Usher syndrome; Stargardt disease; Leber congenital amaurosis; RPE65; nonprofit; patient registry; translational; protein trafficking; protein folding; protein degradation; chaperones; chaperonins; heat shock response; unfolded protein response; autophagy; therapy; inherited retinal diseases; IRD; DNA therapies; RNA therapies; compound therapies; clinical trials; Retinitis Pigmentosa GTPase Regulator; gene therapy; adeno-associated viral; Retinitis Pigmentosa (RP); choroideremia; gene therapy; REP1; inherited retinal disease; treatment; apical polarity; crumbs complex; fetal retina; PAR complex; retinal organoids; retinogenesis; gene augmentation; adeno-associated virus (AAV); Leber congenital amaurosis; n/a