The DOI matches its Crossref record; 175 of the 181 references it cites were found in a registry or an index.
Gene therapy and genome surgery in the retina
Open accessAbstract
Precision medicine seeks to treat disease with molecular specificity. Advances in genome sequence analysis, gene delivery, and genome surgery have allowed clinician-scientists to treat genetic conditions at the level of their pathology. As a result, progress in treating retinal disease using genetic tools has advanced tremendously over the past several decades. Breakthroughs in gene delivery vectors, both viral and nonviral, have allowed the delivery of genetic payloads in preclinical models of retinal disorders and have paved the way for numerous successful clinical trials. Moreover, the adaptation of CRISPR-Cas systems for genome engineering have enabled the correction of both recessive and dominant pathogenic alleles, expanding the disease-modifying power of gene therapies. Here, we highlight the translational progress of gene therapy and genome editing of several retinal disorders, including RPE65-, CEP290-, and GUY2D-associated Leber congenital amaurosis, as well as choroideremia, achromatopsia, Mer tyrosine kinase- (MERTK-) and RPGR X-linked retinitis pigmentosa, Usher syndrome, neovascular age-related macular degeneration, X-linked retinoschisis, Stargardt disease, and Leber hereditary optic neuropathy.
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“Currently, the non-pathogenic equine infectious anemia virus (EIAV) is in clinical trials to treat Usher Syndrome [50] and Stargardt disease [51,52].”
From The Ocular Gene Delivery Landscape (2021) · cites this paper as [50]
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Therapeutic AAV Gene Transfer to the Nervous System: A Clinical Reality
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Retina Metabolism and Metabolism in the Pigmented Epithelium: A Busy Intersection
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Early and late stage gene therapy interventions for inherited retinal degenerations
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Metadata
- Authors
- DiCarlo, J. E., Mahajan, V. B., & Tsang, S. H.
- Affiliations
- NewYork–Presbyterian Hospital (US)
- VA Palo Alto Health Care System (US)
- Corresponding author
- Tsang, Stephen H.
- Venue
- Journal of Clinical Investigation
- Published
- 2018-06-01
- Volume
- 128
- Issue
- 6
- Pages
- 2177-2188
- ISSN
- 0021-9738 (ISSN-L)
- 1558-8238
- PMC
- PMC5983345
- OpenAlex
- W2807488219
- Cited by
- 127
- References
- 181
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 9 · 2023: 17 · 2022: 15 · 2021: 27 · 2020: 24 · 2019: 14 · 2018: 9
- FWCI
- 1.81
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5P30EY019007,R01EY018213,R01EY024698,R01EY026682,R21AG050437)
- National Cancer Institute (5P30CA013696)
- Schneeweiss Stem Cell Fund, New York State (C029572)
- Foundation Fighting Blindness New York Regional Research Center Grant (C-NY05-0705-0312)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Keywords
- gene therapy, genome editing, retinal disease, CRISPR-Cas, gene delivery vectors, Leber congenital amaurosis, choroideremia, achromatopsia, retinitis pigmentosa, Usher syndrome, neovascular age-related macular degeneration, X-linked retinoschisis, Stargardt disease, Leber's hereditary optic neuropathy, RPE65, CEP290, MERTK, RPGR, precision medicine
- MeSH terms
- Gene Editing, Animals, Humans, Retinal Diseases, Genetic Therapy, CRISPR-Cas Systems
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