Журнал клинической и экспериментальной офтальмологии
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Retinitis Pigmentosa Research in the Era of Precision Medicine: Discovery to Translation

Yang Jing

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 ~50% of the RP cases, and it’s predicted that most of the remaining disease-causing genes will be identified by the year 2020, and probably sooner. 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 (Cas9) mediated genome editing, are changing the landscape of RP research, with causative genes being identified at an accelerating rate and great potential to translate these discoveries into personalized therapeutic strategies.