Gene therapy and genome surgery in the retina
James E. DiCarlo,1,2 Vinit B. Mahajan,3,4 and Stephen H. Tsang1,2
1Jonas Children’s Vision Care and Bernard and Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
2Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, New York, USA.
3Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, California, USA.
4Veterans Affairs Palo Alto Health Care System, Palo Alto, California, USA.
Address correspondence to: Stephen H. Tsang, 635 West 165th Street, Box 112, Columbia University Medical Center, New York, New York 10032, USA. Phone: 212.342.1186; Email: sht2@columbia.edu.
Find articles by DiCarlo, J. in: JCI | PubMed | Google Scholar
1Jonas Children’s Vision Care and Bernard and Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
2Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, New York, USA.
3Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, California, USA.
4Veterans Affairs Palo Alto Health Care System, Palo Alto, California, USA.
Address correspondence to: Stephen H. Tsang, 635 West 165th Street, Box 112, Columbia University Medical Center, New York, New York 10032, USA. Phone: 212.342.1186; Email: sht2@columbia.edu.
Find articles by Mahajan, V. in: JCI | PubMed | Google Scholar
1Jonas Children’s Vision Care and Bernard and Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
2Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, New York, USA.
3Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, California, USA.
4Veterans Affairs Palo Alto Health Care System, Palo Alto, California, USA.
Address correspondence to: Stephen H. Tsang, 635 West 165th Street, Box 112, Columbia University Medical Center, New York, New York 10032, USA. Phone: 212.342.1186; Email: sht2@columbia.edu.
Find articles by Tsang, S. in: JCI | PubMed | Google Scholar
First published June 1, 2018 - More info
J Clin Invest. 2018;128(6):2177–2188. https://doi.org/10.1172/JCI120429.
Copyright © 2018, American Society for Clinical Investigation
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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