374 CRISPR/Cas9-base editing mediated correction for recessive dystrophic epidermolysis bullosa

Genome editing represents a promising strategy to correct COL7A1 gene mutations that cause recessive dystrophic epidermolysis bullosa (RDEB). Previously, we used programmable nucleases that create double-stranded DNA breaks (DSBs) to repair COL7A1 mutations through homology-directed repair (HDR) with an exogenous repair template. Delivery of this template can be cytotoxic and DSBs induce undesired insertions and deletions (indels) that compete with desired HDR. To overcome these limitations, we used base editors (BE), a CRISPR/Cas9-based system that uses naturally occurring or laboratory-evolved deaminating enzymes to directly convert A>G, C>T, T>C, or G>A.

Source: Journal of Investigative Dermatology - April 19, 2019 Category: Dermatology Authors: M. Osborn, G. Newby, F. Knipping, D. Liu, J. Tolar Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research