Overcoming obstacles for gene therapy for recessive dystrophic epidermolysis bullosa.

摘要

Recessive dystrophic epidermolysis bullosa (RDEB, OMIM ID #226600) is a severe blistering disease that affects quality of life and is associated with increased mortality, often from squamous cell carcinoma (Fine etal., 1999). Mutations in COL7A1, the gene that encodes type VII collagen, lead to blistering with resultant wounds and scarring. Treatment approaches have included tissue-, cell-, and gene-based therapies, including recent efforts at bone marrow ablation and allogeneic stem cell transplantation (Wagner et al., 2010).