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

Basic data

Title:
Rescuing the common deep intronic USH2A variant c.7595-2144A>G by single gRNA novel EDCas9 genome editing
Duration:
01/02/2022 to 31/01/2023
Abstract / short description:
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.
Keywords:
Tief-intronische Mutation
Genom-Editierung
Missplicing
CRISPR/Cas9

Involved staff

Managers

Center for Ophthalmology
Hospitals and clinical institutes, Faculty of Medicine

Contact persons

Center for Ophthalmology
Hospitals and clinical institutes, Faculty of Medicine

Other staff

Department of Biology
Faculty of Science
Center for Ophthalmology
Hospitals and clinical institutes, Faculty of Medicine

Local organizational units

Research Center for Ophthalmology
Center for Ophthalmology
Hospitals and clinical institutes, Faculty of Medicine

Funders

Needham, Massachusetts, United States of America
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