283 Optimising specificity and applicability of base editing for COL7A1 mutations in recessive dystrophic epidermolysis bullosa

Abstract

Listen

Translate article

Base and prime editors are novel CRISPR variants that reduce the risk of off-target effects by avoiding double-stranded DNA cleavage, bypassing the need for homology-directed repair. As such, these tools offer great therapeutic potential for inherited skin diseases such as recessive dystrophic epidermolysis bullosa (RDEB), a severe blistering skin disorder caused by bi-allelic loss-of-function mutations in COL7A1, which encodes type VII collagen (C7) the major component of anchoring fibrils in skin basement membrane.