为视力丧失研发并提供基因疗法。
Promising and delivering gene therapies for vision loss.
作者信息
Carvalho Livia S, Vandenberghe Luk H
机构信息
Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Harvard University, 20 Staniford Street, Boston, MA 02114, USA.
Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Harvard University, 20 Staniford Street, Boston, MA 02114, USA.
出版信息
Vision Res. 2015 Jun;111(Pt B):124-33. doi: 10.1016/j.visres.2014.07.013. Epub 2014 Aug 2.
Abstract
The maturity in our understanding of the genetics and the pathogenesis of disease in degenerative retinal disorders has intersected in past years with a novel treatment paradigm in which a genetic intervention may lead to sustained therapeutic benefit, and in some cases even restoration of vision. Here, we review this prospect of retinal gene therapy, discuss the enabling technologies that have led to first-in-human demonstrations of efficacy and safety, and the road that led to this exciting point in time.
摘要
在过去几年中，我们对退行性视网膜疾病的遗传学和发病机制的理解已趋于成熟，与一种新的治疗模式相结合，即基因干预可能带来持续的治疗益处，在某些情况下甚至能恢复视力。在此，我们回顾视网膜基因治疗的这一前景，讨论促成首次人体疗效和安全性验证的 enabling 技术，以及引领我们走到这一激动人心时刻的历程。 （注：原文中“enabling technologies”可能是特定领域术语，这里直接保留英文，因为不清楚其准确的中文释义）
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1
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PLoS One. 2014 Apr 4;9(4):e94272. doi: 10.1371/journal.pone.0094272. eCollection 2014.
2
Gene therapy for mitochondrial diseases: Leber Hereditary Optic Neuropathy as the first candidate for a clinical trial.
C R Biol. 2014 Mar;337(3):193-206. doi: 10.1016/j.crvi.2013.11.011. Epub 2014 Feb 24.
3
Gene therapy for inherited retinal degenerations.
C R Biol. 2014 Mar;337(3):185-92. doi: 10.1016/j.crvi.2014.01.002. Epub 2014 Mar 11.
4
Retinoschisin gene therapy in photoreceptors, Müller glia or all retinal cells in the Rs1h-/- mouse.
Gene Ther. 2014 Jun;21(6):585-92. doi: 10.1038/gt.2014.31. Epub 2014 Apr 3.
5
Recent developments in the treatment of age-related macular degeneration.
J Clin Invest. 2014 Apr;124(4):1430-8. doi: 10.1172/JCI71029. Epub 2014 Apr 1.
6
Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors.
Gene Ther. 2014 Apr;21(4):450-6. doi: 10.1038/gt.2014.8. Epub 2014 Feb 27.
7
Dual adeno-associated virus vectors result in efficient in vitro and in vivo expression of an oversized gene, MYO7A.
Hum Gene Ther Methods. 2014 Apr;25(2):166-77. doi: 10.1089/hgtb.2013.212.
8
AAV-mediated lysophosphatidylcholine acyltransferase 1 (Lpcat1) gene replacement therapy rescues retinal degeneration in rd11 mice.
Invest Ophthalmol Vis Sci. 2014 Mar 20;55(3):1724-34. doi: 10.1167/iovs.13-13654.
9
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.
Lancet. 2014 Mar 29;383(9923):1129-37. doi: 10.1016/S0140-6736(13)62117-0. Epub 2014 Jan 16.
10
Advances in gene therapy technologies to treat retinitis pigmentosa.
Clin Ophthalmol. 2014;8:127-36. doi: 10.2147/OPTH.S38041. Epub 2013 Dec 24.
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