Sofia Milasi

JUL 31, 2026 · JOURNAL ARTICLE

Phenotype rescue through the restoration of full-length dystrophin using CRISPR/Cas9 genome editing in Duchenne muscular dystrophy patient-derived iPSCs carrying the deletion of two exons

Genome Medicine

First-in-human demonstration of CRISPR/Cas9 correction of multi-exon DMD deletion in patient iPSCs with rescue of in vitro cardiac phenotypes, but limited to a single cell line, surrogate endpoints, and no animal or clinical translation yet.