The teams of Genethon and the Institut de Myologie –the AFM-Telethon laboratories-, and a team from the University of Ferrara, announce in Molecular Therapy Nucleic Acids that they have succeeded in restoring the expression of dystrophin, thanks to CRISPR-Cas9!
Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System
Exonic duplications account for 10%–15% of all mutations in Duchenne muscular dystrophy (DMD), a severe hereditary neuromuscular disorder. We report a CRISPR (clustered regularly interspaced short palindromic repeat)/Cas9-based strategy to correct the most frequent (exon 2) duplication in the DMD gene by targeted deletion, and tested the efficacy of such an approach in patient-derived myogenic cells. We demonstrate restoration of wild-type dystrophin expression at transcriptional and protein level in myotubes derived from genome-edited myoblasts in the absence of selection.