Jonas 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.
Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, New York, USA.
J Clin Invest. 2018 Jun 1;128(6):2177-2188. doi: 10.1172/JCI120429.
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.
精准医学旨在针对疾病的分子特异性进行治疗。基因组序列分析、基因传递和基因组手术方面的进展,使临床科学家能够在疾病的病理水平上治疗遗传疾病。因此,过去几十年中,利用遗传工具治疗视网膜疾病方面取得了巨大进展。病毒和非病毒基因传递载体的突破,使得能够在视网膜疾病的临床前模型中传递遗传有效载荷,并为众多成功的临床试验铺平了道路。此外,CRISPR-Cas 系统用于基因组工程的适应性,使得纠正隐性和显性致病等位基因成为可能,从而扩展了基因治疗的疾病修饰能力。在这里,我们重点介绍了几种视网膜疾病的基因治疗和基因组编辑的转化进展,包括 RPE65、CEP290 和 GUY2D 相关的莱伯先天性黑蒙、脉络膜视网膜变性、色盲、Mer 酪氨酸激酶(MERTK)和 RPGR X 连锁视网膜色素变性、Usher 综合征、新生血管性年龄相关性黄斑变性、X 连锁性视网膜劈裂症、Stargardt 病和莱伯遗传性视神经病变。