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Gene therapy and genome surgery in the retina.

TitleGene therapy and genome surgery in the retina.
Publication TypeJournal Article
Year of Publication2018
AuthorsDiCarlo, James E., Mahajan Vinit B., and Tsang Stephen H.
JournalJ Clin Invest
Volume128
Issue6
Pagination2177-2188
Date Published2018 Jun 01
ISSN1558-8238
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.

DOI10.1172/JCI120429
Alternate JournalJ. Clin. Invest.
PubMed ID29856367
PubMed Central IDPMC5983345
Grant ListR21 AG050437 / AG / NIA NIH HHS / United States
R01 EY018213 / EY / NEI NIH HHS / United States
P30 EY026877 / EY / NEI NIH HHS / United States
R01 EY024665 / EY / NEI NIH HHS / United States
R01 EY026682 / EY / NEI NIH HHS / United States
R01 EY024698 / EY / NEI NIH HHS / United States
P30 EY019007 / EY / NEI NIH HHS / United States
R01 EY025225 / EY / NEI NIH HHS / United States
P30 CA013696 / CA / NCI NIH HHS / United States