New Editing Tools for Gene Therapy in Inherited Retinal Dystrophies

Autor: Pulman, Juliette, Sahel, José-Alain, Dalkara, Deniz
Přispěvatelé: Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Pulman, Juliette
Rok vydání: 2022
Předmět:
Zdroj: The CRISPR Journal
The CRISPR Journal, 2022, ⟨10.1089/crispr.2021.0141⟩
ISSN: 2573-1602
2573-1599
Popis: International audience; 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 longterm 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-inhuman application of CRISPR-Cas9 in an IRD.
Databáze: OpenAIRE
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