New Editing Tools for Gene Therapy in Inherited Retinal Dystrophies.

Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101738191 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2573-1602 (Electronic) Linking ISSN: 25731599 NLM ISO Abbreviation: CRISPR J Subsets: MEDLINE

Original Publication: [New Rochelle, NY] : Mary Ann Liebert, Inc., [2018]-

Gene Editing* ; Retinal Dystrophies*/genetics ; Retinal Dystrophies*/therapy; CRISPR-Cas Systems/genetics ; Genetic Therapy ; Humans

Inherited retinal dystrophies (IRDs) are a heterogeneous group of diseases that affect more than 2 million people worldwide. Gene therapy (GT) has emerged as an exciting treatment modality with the potential to provide long-term benefit to patients. Today, gene addition is the most straightforward GT for autosomal recessive IRDs. However, there are three scenarios where this approach falls short. First, in autosomal dominant diseases caused by gain-of-function or dominant-negative mutations, the toxic mutated protein needs to be silenced. Second, a number of IRD genes exceed the limited carrying capacity of adeno-associated virus vectors. Third, there are still about 30% of patients with unknown mutations. In the first two contexts, precise editing tools, such as CRISPR-Cas9, base editors, or prime editors, are emerging as potential GT solutions for the treatment of IRDs. Here, we review gene editing tools based on CRISPR-Cas9 technology that have been used in vivo and the recent first-in-human application of CRISPR-Cas9 in an IRD.

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Date Created: 20220504 Date Completed: 20220614 Latest Revision: 20220716

20240104

PMC9233507

10.1089/crispr.2021.0141

35506982