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dc.contributor.editorCollin, Rob W.J.
dc.contributor.editorGaranto, Alejandro
dc.date.accessioned2021-05-01T15:43:01Z
dc.date.available2021-05-01T15:43:01Z
dc.date.issued2020
dc.identifierONIX_20210501_9783039431762_920
dc.identifier.urihttps://directory.doabooks.org/handle/20.500.12854/69174
dc.description.abstractFollowing 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.
dc.languageEnglish
dc.subject.classificationbic Book Industry Communication::G Reference, information & interdisciplinary subjects::GP Research & information: general
dc.subject.classificationbic Book Industry Communication::P Mathematics & science::PS Biology, life sciences
dc.subject.otherinduced pluripotent stem cell (iPSC)
dc.subject.otherclustered regularly interspaced short palindromic repeats (CRISPR)
dc.subject.otherhomology-directed repair (HDR)
dc.subject.otherEnhanced S-Cone Syndrome (ESCS)
dc.subject.otherNR2E3
dc.subject.otherAAV
dc.subject.otherretina
dc.subject.othergene therapy
dc.subject.otherdual AAV
dc.subject.othergold nanoparticles
dc.subject.otherDNA-wrapped gold nanoparticles
dc.subject.otherARPE-19 cells
dc.subject.otherretinal pigment epithelium
dc.subject.otherclathrin-coated vesicles
dc.subject.otherendosomal trafficking
dc.subject.otherretinitis pigmentosa
dc.subject.otherautosomal dominant
dc.subject.otherG56R
dc.subject.otherputative dominant negative effect
dc.subject.othergapmer antisense oligonucleotides
dc.subject.otherallele-specific knockdown
dc.subject.otherLeber congenital amaurosis and allied retinal ciliopathies
dc.subject.otherCEP290
dc.subject.otherFlanders founder c.4723A &gt
dc.subject.otherT nonsense mutation
dc.subject.otherCilia elongation
dc.subject.otherspontaneous nonsense correction
dc.subject.otherAON-mediated exon skipping
dc.subject.othermicroRNA
dc.subject.otherphotoreceptors
dc.subject.otherrods
dc.subject.othercones
dc.subject.otherbipolar cells
dc.subject.otherMüller glia
dc.subject.otherretinal inherited disorders
dc.subject.otherretinal degeneration
dc.subject.otherantisense oligonucleotides
dc.subject.otherStargardt disease
dc.subject.otherinherited retinal diseases
dc.subject.othersplicing modulation
dc.subject.otherRNA therapy
dc.subject.otherABCA4
dc.subject.otheriPSC-derived photoreceptor precursor cells
dc.subject.othercyclic GMP
dc.subject.otherapoptosis
dc.subject.othernecrosis
dc.subject.otherdrug delivery systems
dc.subject.othertranslational medicine
dc.subject.otherUsher syndrome
dc.subject.otherLeber congenital amaurosis
dc.subject.otherRPE65
dc.subject.othernonprofit
dc.subject.otherpatient registry
dc.subject.othertranslational
dc.subject.otherprotein trafficking
dc.subject.otherprotein folding
dc.subject.otherprotein degradation
dc.subject.otherchaperones
dc.subject.otherchaperonins
dc.subject.otherheat shock response
dc.subject.otherunfolded protein response
dc.subject.otherautophagy
dc.subject.othertherapy
dc.subject.otherIRD
dc.subject.otherDNA therapies
dc.subject.otherRNA therapies
dc.subject.othercompound therapies
dc.subject.otherclinical trials
dc.subject.otherRetinitis Pigmentosa GTPase Regulator
dc.subject.otheradeno-associated viral
dc.subject.otherRetinitis Pigmentosa (RP)
dc.subject.otherchoroideremia
dc.subject.otherREP1
dc.subject.otherinherited retinal disease
dc.subject.othertreatment
dc.subject.otherapical polarity
dc.subject.othercrumbs complex
dc.subject.otherfetal retina
dc.subject.otherPAR complex
dc.subject.otherretinal organoids
dc.subject.otherretinogenesis
dc.subject.othergene augmentation
dc.subject.otheradeno-associated virus (AAV)
dc.subject.othern/a
dc.titleMolecular Therapies for Inherited Retinal Diseases
dc.typebook
oapen.identifier.doi10.3390/books978-3-03943-177-9
oapen.relation.isPublishedBy46cabcaa-dd94-4bfe-87b4-55023c1b36d0
oapen.relation.isbn9783039431762
oapen.relation.isbn9783039431779
oapen.pages262
oapen.place.publicationBasel, Switzerland


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