In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a devastating disease affecting about 1 out of 5000 male births and caused by mutations in the dystrophin gene. Genome editing has the potential to restore expression of a modified dystrophin gene from the native locus to modulate disease progression. In this study, adeno-associated virus was used to deliver the clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 system to the mdx mouse model of DMD to remove the mutated exon 23 from the dystrophin gene. This includes local and systemic delivery to adult mice and systemic delivery to neonatal mice. Exon 23 deletion by CRISPR-Cas9 resulted in expression of the modified dystrophin gene, partial recovery of…

• NS
  National Science Foundation
• WM
  W. M. Keck Foundation
• SF
  Simons Foundation
• MO
  March of Dimes Foundation
• PG
  Paul G. Allen Family Foundation
• AH
  American Heart Association
• DR
  Damon Runyon Cancer Research Foundation
• NY
  New York Stem Cell Foundation
• MD
  Muscular Dystrophy Association

  Award: MDA277360
• PA
  Paul and Daisy Soros Fellowships for New Americans
• HF
  Hartwell Foundation
• VF
  Vallee Foundation
• NI
  National Institutes of Health

  Awards: P01HL112761, R01DK097768, DP2-OD008586, R01HL089221, R01NS90634, DP1-MH100706
• NI
  National Institute of General Medical Sciences

  Award: T32GM007753