CRISPR/Cas9-based genetic correction for recessive dystrophic epidermolysis bullosa

Gene-editing coupled with patient-specific stem cell technology could help treat the rare skin disorder epidermolysis bullosa (EB). A team led by Jakub Tolar from the University of Minnesota, Minneapolis, USA, took skin punch biopsies from children with a recessive form of EB caused by mutations in the type VII collagen gene COL7A1. These children have extremely fragile skin that blisters and tears from even the smallest trauma. The researchers used CRISPR/Cas9 gene-editing to correct the mutations in fibroblast cells from the skin. They then reprogrammed the gene-corrected cells into induced pluripotent stem cells, before coaxing the stems cells to form functional outer skin cells, bone marrow cells and blood cells. The ability to create multiple working cell types from a patient's own cells opens up a new therapeutic direction for this painful genetic condition.