Molecular Therapies for Inherited Retinal Diseases
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...
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| Idioma: | inglês |
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MDPI - Multidisciplinary Digital Publishing Institute
2021
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| Acesso em linha: | ONIX_20210501_9783039431762_920 |
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| description | 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 | Online |
| id | doab-20.500.12854ir-69174 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2021 |
| publishDateRange | 2021 |
| publishDateSort | 2021 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-691742024-03-28T03:30:37Z Molecular Therapies for Inherited Retinal Diseases Collin, Rob W.J. Garanto, Alejandro 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 thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general thema EDItEUR::P Mathematics and Science::PS Biology, life sciences 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. 2021-05-01T15:43:01Z 2021-05-01T15:43:01Z 2020 book ONIX_20210501_9783039431762_920 9783039431762 9783039431779 https://directory.doabooks.org/handle/20.500.12854/69174 eng application/octet-stream Attribution 4.0 International https://mdpi.com/books/pdfview/book/2946 https://mdpi.com/books/pdfview/book/2946 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-03943-177-9 10.3390/books978-3-03943-177-9 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783039431762 9783039431779 262 Basel, Switzerland open access |
| spellingShingle | 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 thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general thema EDItEUR::P Mathematics and Science::PS Biology, life sciences Molecular Therapies for Inherited Retinal Diseases |
| title | Molecular Therapies for Inherited Retinal Diseases |
| title_full | Molecular Therapies for Inherited Retinal Diseases |
| title_fullStr | Molecular Therapies for Inherited Retinal Diseases |
| title_full_unstemmed | Molecular Therapies for Inherited Retinal Diseases |
| title_short | Molecular Therapies for Inherited Retinal Diseases |
| title_sort | molecular therapies for inherited retinal diseases |
| topic | 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 thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general thema EDItEUR::P Mathematics and Science::PS Biology, life sciences |
| topic_facet | 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 thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general thema EDItEUR::P Mathematics and Science::PS Biology, life sciences |
| url | ONIX_20210501_9783039431762_920 |