Recessive dystrophic epidermolysis bullosa (RDEB) manifests with blistering and erosions of the skin mucous membranes due to mutations in COL7A1. The repetitive wounding healing processes lead extensive cutaneous scarring. scarring is driven by inflammatory processes, particularly TGF-b signaling pathways, resulting deposition extracellular matrix, especially collagen. There currently no effect...

Dominant dystrophic epidermolysis bullosa (DDEB) is an inherited blistering skin disease caused by heterozygous mutations in COL7A1, which encodes type VII collagen (C7), the major component of anchoring fibrils that maintain integrity dermal-epidermal junction. Most COL7A1 DDEB are single nucleotide variants, resulting glycine substitutions within C7 triple helix. Functionally, such cause impa...

Dystrophic Epidermolysis Bullosa (DEB) is a group of rare inherited genodermatoses causing skin and mucosal blistering wide range local systemic severe complications. DEB can be recessively (RDEB) or dominantly (DDEB) inherited, both forms being due to mutations in COL7A1 encoding type VII collagen (C7), the component anchoring fibrils (AFs) which are essential for dermal-epidermal adhesion. co...

Recessive dystrophic epidermolysis bullosa (RDEB) is a severe mucocutaneous disease caused by loss-of-function mutations to the collagen VIIa (COL7A1) gene that encodes type VII peptide (C7). Previously, we used programmable nucleases and DNA base editors (BE) repair COL7A1 through homology-directed (HDR) or deamination, respectively. These efforts represent personalized medicine approach; howe...