Correction of the two most prevalent ush2a mutations by genome editing

Abstract

The present invention relates to the field of therapeutic treatment of inherited retinal dystrophies, and in particular of syndromic Usher syndrome type 2 and non-syndromic retinitis pigmentosa, by genome engineering. Currently, no treatment is available for this disease, which is caused by mutations in the USH2A gene. By using an in vitro or ex vivo method according to the invention comprising a site-directed genetic engineering system including specific gRNA sequences, the CRISPR technology and a donor nucleic acid sequence as a repair template, the inventors were able to successfully generate USH2A gene corrected iPSCs. The present invention also relates to a system for correcting the two most prevalent USH2A gene mutations in the genome of a cell, such as of photoreceptor cell, of an individual in need thereof comprising specific gRNA sequences, the CRISPR technology and a donor nucleic acid sequence as a repair template.

Dependencies are inferred from the claim text.