LB1544 Highly efficient, permanent ex vivo correction of RDEB via non-viral CRISPR/Cas9 excision of COL7A1 Exon 80 bearing a prevalent mutation

Designer nuclease-mediated gene editing constitutes a novel approach to precisely correct disease-causing gene mutations. Frame shift mutations in genes such as COL7A1, causing recessive dystrophic Epidermolysis Bullosa (RDEB), are amenable to non-homologous end joining-based corrective approaches. In previous studies using TALE nucleases designed to produce NHEJ-induced frame-restoring indels in RDEB keratinocytes, cloning, selection and expansion of corrected epidermal stem cells had been a pre-requisite to obtain sufficient cells to achieve skin regeneration with therapeutic potential.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetic Disease, Gene Regulation and Gene Therapy Source Type: research