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Molecular Therapies for Inherited Retinal Diseases
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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.
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Keywords
- AAV
- ABCA4
- adeno-associated viral
- adeno-associated virus (AAV)
- allele-specific knockdown
- Antisense oligonucleotides
- AON-mediated exon skipping
- apical polarity
- Apoptosis
- ARPE-19 cells
- Autophagy
- autosomal dominant
- Biology, Life Sciences
- bipolar cells
- CEP290
- chaperones
- chaperonins
- choroideremia
- Cilia elongation
- clathrin-coated vesicles
- clinical trials
- clustered regularly interspaced short palindromic repeats (CRISPR)
- compound therapies
- cones
- crumbs complex
- Cyclic GMP
- DNA therapies
- DNA-wrapped gold nanoparticles
- Drug delivery systems
- dual AAV
- endosomal trafficking
- Enhanced S-Cone Syndrome (ESCS)
- fetal retina
- Flanders founder c.4723A >
- G56R
- gapmer antisense oligonucleotides
- gene augmentation
- Gene Therapy
- gold nanoparticles
- heat shock response
- homology-directed repair (HDR)
- induced pluripotent stem cell (iPSC)
- inherited retinal disease
- inherited retinal diseases
- iPSC-derived photoreceptor precursor cells
- IRD
- Leber congenital amaurosis
- Leber congenital amaurosis and allied retinal ciliopathies
- Mathematics & science
- microRNA
- Müller glia
- n/a
- necrosis
- Nonprofit
- NR2E3
- par complex
- patient registry
- photoreceptors
- protein degradation
- Protein Folding
- protein trafficking
- putative dominant negative effect
- Reference, information & interdisciplinary subjects
- REP1
- Research & information: general
- Retina
- Retinal degeneration
- retinal inherited disorders
- retinal organoids
- retinal pigment epithelium
- retinitis pigmentosa
- Retinitis Pigmentosa (RP)
- Retinitis Pigmentosa GTPase Regulator
- retinogenesis
- RNA therapies
- RNA therapy
- rods
- RPE65
- splicing modulation
- spontaneous nonsense correction
- Stargardt disease
- T nonsense mutation
- Therapy
- translational
- translational medicine
- Treatment
- Unfolded Protein Response
- Usher syndrome
Links
DOI: 10.3390/books978-3-03943-177-9Editions