Title | Gene therapy and genome surgery in the retina. |
Publication Type | Journal Article |
Year of Publication | 2018 |
Authors | DiCarlo, James E., Mahajan Vinit B., and Tsang Stephen H. |
Journal | J Clin Invest |
Volume | 128 |
Issue | 6 |
Pagination | 2177-2188 |
Date Published | 2018 Jun 01 |
ISSN | 1558-8238 |
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. |
DOI | 10.1172/JCI120429 |
Alternate Journal | J. Clin. Invest. |
PubMed ID | 29856367 |
PubMed Central ID | PMC5983345 |
Grant List | R21 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 |