Rescuing the common deep intronic USH2A variant c.7595-2144A>G by single gRNA novel EDCas9 genome editing

01/02/2022 to 31/01/2023

Usher syndrome is characterized by hereditary deafness and subsequent blindness. Different forms of Usher syndrome are caused by different mutations in various genes, one of which is the USH2A gene. A deep intronic mutation (c.7595-2144A>G) in this gene is found in up to 4% of Usher syndrome patients. It is known to result in incorrect splicing and consequently no functional protein can be formed. Within this project, we want to rescue this mutation by genome editing applying a novel bioengineered EDCas9 variant to restore correct splicing which will lead to rescue of correct protein synthesis, hereby reverting the Usher syndrome cellular disease phenotype.