Dystrophic epidermolysis bullosa (DEB) is a rare genetic disorder due to mutations in COL7A1, the gene encoding type VII collagen (C7), and characterized by skin fragility, painful wounds, various cutaneous systemic comorbidities. Currently there are no corrective, approved treatments for DEB. Beremagene geperpavec (B-VEC) an investigational engineered HSV-1-based vector, which restores C7 expr...

BACKGROUND Recessive dystrophic epidermolysis bullosa (RDEB) is a hereditary skin disorder characterized by mechanical fragility of the skin, resulting in blistering and chronic wounds. The causative mutations lie in the COL7A1 gene. Patients suffering from RDEB have a high risk to develop aggressive, rapidly metastasizing squamous cell carcinomas (SCCs). Cutaneous RDEB SCCs develop preferentia...

Genome editing with engineered site-specific endonucleases involves nonhomologous end-joining, leading to reading frame disruption. The approach is applicable to dominant negative disorders, which can be treated simply by knocking out the mutant allele, while leaving the normal allele intact. We applied this strategy to dominant dystrophic epidermolysis bullosa (DDEB), which is caused by a domi...

Human induced pluripotent stem cell (hiPSC)-derived hair-bearing skin organoids offer exciting new possibilities for modelling diseases like epidermolysis bullosa. These inherited affect 1 in 30,000 people worldwide and result from perturbed expression and/or structure of components the epidermal-dermal junction, interface between basal keratinocytes epidermis stroma dermis. To establish whethe...