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

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.