精准医疗时代的RP研究：发现与转化

RP research in the era of precision medicine： discovery to translation

视网膜色素上皮变性（RP）包括多种遗传性视网膜变性疾病，这种变性是由一系列不同的基因突变造成的，其临床表现和严重程度具有高度异质性。在过去25年来的研究中，半数以上的RP病例的致病基因已经确定，预测剩余的致病基因绝大多数将会在2020年以前得到鉴定。RP基因诊断和治疗研究进程的快速进展基于DNA测序技术及其相关分析技术的飞速发展。近期的2种新技术的开发和应用为RP的研究开辟了新的前景，包括诱导多能干细胞研究和规律间隔成簇短回文重复序列（CRISPR）／CRISPR相关核酸酶-9（Cas-9）介导的基因组编辑技术，使得RP致病基因的鉴定结果取得了长足的进步，这种新发现具有转化成RP个体化精准治疗策略的潜力。

Retinitis pigmentosa （RP） encompasses many different hereditary retinal degenerations that are caused by a vast array of different gene mutations and have highly variable disease presentations and severities. Work over the past 25 years has resulted in the identification of genes responsible for about 50% of the RP cases, and it＇s predicted that most of the remaining disease-causing genes will be identified by the year 2020 or most likelysooner. This marked acceleration is the result of dramatic improvements in DNA-sequencing technologies and the associated analysis. The advent of two recent innovations, induced pluripotent stem cells （iPSCs） and clustered regularly interspaced short palindromic repeats （CRISPR）/CRISPR-associated nuclease-9 （Cas-9） mediated genome editing, are changing the landscape of RP research, with causative genes being identified at an accelerated rate withgreat potential to translate these discoveries into personalized therapeutic strategies.