RP research in the era of precision medicine:discovery to translation / 中华实验眼科杂志

ABSTRACT

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.