RDEB is a rare bullous genodermatosis caused by mutations in COL7A1. Clinical features range from severe wounds to esophageal strictures and anemia. Prior work has identified associations of biallelic COL7A1 premature termination codon (PTC) with more disease, likely absent or severely truncated type VII collagen (C7), but genotype-phenotype for other including splice site (SP) missense (MS) re...

Fig 1. Squamous cell carcinoma identified after multiple biopsy specimens of poorly healing area over left E pidermolysis bullosa (EB) consists of a heterogeneous group of autosomal dominant or recessive disorders, characterized by epithelial fragility. In dystrophic EB, patients have a genetic defect in the gene encoding collagen VII, COL7A1. Generalized severe recessive dystrophic EB (RDEB) i...

Base editing, the introduction of a single base correction in genomic DNA, has potential to treat genetic skin diseases such as recessive dystrophic epidermolysis bullosa (RDEB), which is characterized by mutations COL7A1 gene and type VII collagen (C7) deficiency. Hitherto, editing been harnessed correct disease-causing but reproducible platform for efficient safe approach clinical translation...

Mutations within COL7A1 cause malfunction, reduction or complete absence of type VII collagen in the skin’s basement membrane zone (BMZ) leading to recessive dystrophic epidermolysis bullosa (RDEB), a severe and rare skin blistering disease associated with high risk cancer as well increased mortality. In this study, we use 3’ RNAtrans-splicing molecule (RTM) repair develop non-viral, non-invasi...