Progress and challenge of gene therapy on inherited retinal diseases_Chinese Journal of Ocular Fundus Diseases

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School of Optometry and Ophthalmology, Wenzhou Medical University, Wenzhou 325027, China;

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Keywords：

Retinal diseases/genetics; Gene therapy; Editorial

DOI：

10.3760/cma.j.issn.1005-1015.2016.06.002

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The rapid development of genetic diagnosis-related technologies has paved a wide road for gene therapy. Different gene therapy clinical trials for retinal disorders, including gene-replacement therapy, anti-neovascular gene therapy and opotogenetic gene therapy, have been developed and achieved fruitful results, which have gradually confirmed the efficacy and safety of adeno-associated virus (AAV)-mediated gene therapy for recessive retinal diseases. In recent years, novel gene editing technologies also shows great potential to treat dominant retinal disease, or recessive retinal disease when the therapeutic gene fragments are too long to fit into the AAV vectors. These results make it possible for most of the patients with inherited retinal diseases to be treated by the safe and effective AAV-mediated gene therapy, which will also benefit Chinese patients soon.

Citation： PangJijing, XuFan. Progress and challenge of gene therapy on inherited retinal diseases. Chinese Journal of Ocular Fundus Diseases, 2016, 32(6): 569-572. doi: 10.3760/cma.j.issn.1005-1015.2016.06.002 Copy

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2.	Acland GM, Aguirre GD, Ray J, et al. Gene therapy restores vision in a canine model of childhood blindness[J]. Nat Genet, 2001, 28(1):92-95.
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14.	李光辉, 曾芳, 王晔恺, 等.腺相关病毒载体在视网膜色素变性基因治疗中的应用研究进展[J].中华眼底病杂志, 2014, 30(6):636-639. DOI:10.3760/cma.j.issn.1005-1015.2014.06.031.Li GH, Zeng F, Wang YK, et al.The recent research advance of adeno-associated virus vector in gene therpay for retinitis pigmentosa[J].Chin J Ocul Fundus Dis, 2014, 30(6):636-639. DOI:10.3760/cma.j.issn.1005-1015.2014.06.031.
15.	Wan X, Pei H, Zhao MJ, et al. Efficacy and safety of rAAV2-ND4 treatment for Leber's hereditary optic neuropathy[J/OL]. Sci Rep, 2016, 6:21587[2016-02-19].http://www.nature.com/articles/srep21587.DOI:10.1038/srep21587.
16.	Cideciyan AV, Jacobson SG, Beltran WA, et al. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement[J]. Proc Natl Acad Sci USA, 2013, 110(6):517-525. DOI:10.1073/pnas.1218933110.
17.	Hung SS, Chrysostomou V, Li F, et al. AAV-mediated CRISPR/Cas gene editing of retinal cells in vivo[J]. Invest Ophthalmol Vis Sci, 2016, 57(7):3470-3476. DOI:10.1167/iovs.16-19316.
18.	Cox DB, Platt RJ, Zhang F. Therapeutic genome editing:prospects and challenges[J]. Nat Med, 2015, 21(2):121-131. DOI:10.1038/nm.3793.
19.	Doudna JA, Charpentier E. Genome editing:the new frontier of genome engineering with CRISPR-Cas9[J]. Science, 2014, 346(6213):1258096. DOI:10.1126/science.1258096.
20.	Hendriks WT, Warren CR, Cowan CA. Genome editing in human pluripotent stem cells:approaches pitfalls, and solutions[J]. Cell Stem Cell, 2016, 18(1):53-65. DOI:10.1016/j.stem.2015.12.002.
21.	Bassuk AG, Zheng A, Li Y, et al. Precision medicine:genetic repair of retinitis pigmentosa in patient-derived stem cells[J/OL]. Sci Rep, 2016, 6:19969[2016-01-27].http://www.nature.com/articles/srep19969.DOI:10.1038/srep19969.
22.	Wu Y, Zhou H, Fan X, et al. Correction of a genetic disease by CRISPR-Cas9-mediated gene editing in mouse spermatogonial stem cells[J]. Cell Res, 2015, 25(1):67-79. DOI:10.1038/cr.2014.160.
23.	Ayala FJ. Cloning humans? Biological, ethical, and social considerations[J]. Proc Natl Acad Sci USA, 2015, 112(29):8879-8886. DOI:10.1073/pnas.1501798112.

1. Pang JJ, Chang B, Kumar A, et al. Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis[J]. Mol Ther, 2006, 13(3):565-572.
2. Acland GM, Aguirre GD, Ray J, et al. Gene therapy restores vision in a canine model of childhood blindness[J]. Nat Genet, 2001, 28(1):92-95.
3. MacLaren RE, Groppe M, Barnard AR, et al. Retinal gene therapy in patients with choroideremia:initial findings from a phase 1/2 clinical trial[J]. Lancet, 2014, 383(9923):1129-1137. DOI:10.1016/S0140-6736(13)62117-0.
4. Al-Saikhan FI. The gene therapy revolution in ophthalmology[J]. Saudi J Ophthalmol, 2013, 27(2):107-111. DOI:10.1016/j.sjopt.2013.02.001.
5. Kinnunen K, Yla-Herttuala S. Gene therapy in age related macular degeneration and hereditary macular disorders[J]. Front Biosci (Elite Ed), 2012, 4:2546-2557.
6. Feuer WJ, Schiffman JC, Davis JL, et al. Gene therapy for leber hereditary optic neuropathy:initial results[J]. Ophthalmology, 2016, 123(3):558-570. DOI:10.1016/j.ophtha.2015.10.025.
7. 何颖, 戴旭锋, 张华, 等. Stargardt病基因治疗研究现状与进展[J].中华眼底病杂志, 2016, 32(2):224-227. DOI:10.3760/cma.j.issn.1005-1015.2016.02.029.He Y, Dai XF, Zhang H, et al.The status and progress in gene therapy study of Stargardt disease[J].Chin J Ocul Fundus Dis, 2016, 32(2):224-227. DOI:10.3760/cma.j.issn.1005-1015.2016.02.029.
8. 吴艺君, 郑钦象, 李文生. Leber先天性黑矇Ⅱ型基因治疗进展[J].中华眼底病杂志, 2014, 30(5):532-534. DOI:10.3760/cma.j.issn.1005-1015.2014.05.030.Wu YJ, Zheng QX, Li WS.The progress of gene therapy for Leber's congenital amaurosis Ⅱ[J].Chin J Ocul Fundus Dis, 2014, 30(5):532-534. DOI:10.3760/cma.j.issn.1005-1015.2014.05.030.
9. Jacobson SG, Cideciyan AV, Roman AJ, et al. Improvement and decline in vision with gene therapy in childhood blindness[J]. N Engl J Med, 2015, 372(20):1920-1926. DOI:10.1056/NEJMoa1412965.
10. Cideciyan AV, Aleman TS, Boye SL, et al. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics[J]. Proc Natl Acad Sci USA, 2008, 105(39):15112-15117. DOI:10.1073/pnas.0807027105.
11. Schimmer J, Breazzano S. Investor outlook:significance of the positive LCA2 gene therapy phase Ⅲ results[J]. Hum Gene Ther Clin Dev, 2015, 26(4):208-210. DOI:10.1089/humc.2015.29004.sch.
12. Schimmer J, Breazzano S. Investor outlook:focus on upcoming LCA2 gene therapy phase Ⅲ results[J]. Hum Gene Ther Clin Dev, 2015, 26(3):144-149. DOI:10.1089/humc.2015.29001.sch.
13. Edwards TL, Jolly JK, Groppe M, et al. Visual acuity after retinal gene therapy for choroideremia[J]. N Engl J Med, 2016, 374(20):1996-1998. DOI:10.1056/NEJMc1509501.
14. 李光辉, 曾芳, 王晔恺, 等.腺相关病毒载体在视网膜色素变性基因治疗中的应用研究进展[J].中华眼底病杂志, 2014, 30(6):636-639. DOI:10.3760/cma.j.issn.1005-1015.2014.06.031.Li GH, Zeng F, Wang YK, et al.The recent research advance of adeno-associated virus vector in gene therpay for retinitis pigmentosa[J].Chin J Ocul Fundus Dis, 2014, 30(6):636-639. DOI:10.3760/cma.j.issn.1005-1015.2014.06.031.
15. Wan X, Pei H, Zhao MJ, et al. Efficacy and safety of rAAV2-ND4 treatment for Leber's hereditary optic neuropathy[J/OL]. Sci Rep, 2016, 6:21587[2016-02-19].http://www.nature.com/articles/srep21587.DOI:10.1038/srep21587" target="_blank">10.1038/srep21587">http://www.nature.com/articles/srep21587.DOI:10.1038/srep21587.
16. Cideciyan AV, Jacobson SG, Beltran WA, et al. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement[J]. Proc Natl Acad Sci USA, 2013, 110(6):517-525. DOI:10.1073/pnas.1218933110.
17. Hung SS, Chrysostomou V, Li F, et al. AAV-mediated CRISPR/Cas gene editing of retinal cells in vivo[J]. Invest Ophthalmol Vis Sci, 2016, 57(7):3470-3476. DOI:10.1167/iovs.16-19316.
18. Cox DB, Platt RJ, Zhang F. Therapeutic genome editing:prospects and challenges[J]. Nat Med, 2015, 21(2):121-131. DOI:10.1038/nm.3793.
19. Doudna JA, Charpentier E. Genome editing:the new frontier of genome engineering with CRISPR-Cas9[J]. Science, 2014, 346(6213):1258096. DOI:10.1126/science.1258096.
20. Hendriks WT, Warren CR, Cowan CA. Genome editing in human pluripotent stem cells:approaches pitfalls, and solutions[J]. Cell Stem Cell, 2016, 18(1):53-65. DOI:10.1016/j.stem.2015.12.002.
21. Bassuk AG, Zheng A, Li Y, et al. Precision medicine:genetic repair of retinitis pigmentosa in patient-derived stem cells[J/OL]. Sci Rep, 2016, 6:19969[2016-01-27].http://www.nature.com/articles/srep19969.DOI:10.1038/srep19969" target="_blank">10.1038/srep19969">http://www.nature.com/articles/srep19969.DOI:10.1038/srep19969.
22. Wu Y, Zhou H, Fan X, et al. Correction of a genetic disease by CRISPR-Cas9-mediated gene editing in mouse spermatogonial stem cells[J]. Cell Res, 2015, 25(1):67-79. DOI:10.1038/cr.2014.160.
23. Ayala FJ. Cloning humans? Biological, ethical, and social considerations[J]. Proc Natl Acad Sci USA, 2015, 112(29):8879-8886. DOI:10.1073/pnas.1501798112.

Chinese Journal of Ocular Fundus Diseases

Progress and challenge of gene therapy on inherited retinal diseases

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