Cited by 127Retinal Development and DisordersVirus-based gene therapy researchRetinal Diseases and Treatments

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Gene therapy and genome surgery in the retina

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DiCarlo, James E., Mahajan, Vinit B., Tsang, Stephen H.·2018·Journal of Clinical Investigation

DOI 10.1172/jci120429PMC PMC5983345

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Abstract

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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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.
ORCID: Mahajan, Vinit B.
Tsang, Stephen H.
Venue: Journal of Clinical Investigation
Publisher: American Society for Clinical Investigation
Published: 2018-06-01
Volume: 128
Issue: 6
Pages: 2177-2188
ISSN: 0021-9738 (ISSN-L)
1558-8238
DOI: 10.1172/jci120429
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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Gene therapy and genome surgery in the retina

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