Grant: Operating Grant

Epidermolysis bullosa (EB) is a genetic disease that is characterized by intense blistering of the skin. The severity of this disease varies among subtypes with mild blistering to severe bulla formation, erosion, scarring, mutilation and lethal outcome. Its prevalence is around twenty per million live births, and it is estimated that 300 to 500 patients live in Canada. There is no cure for EB and only palliative treatments are offered to patients. Several experimental strategies are tested in preclinical studies and in patients that include protein therapy, cell therapy, and gene therapy. In the last 10 years, gene therapy has started to fulfill its promises for the treatment of leukemia and some genetic diseases. We propose to develop a gene therapy approach for the treatment of one subtype of epidermolysis bullosa. For this, we will construct a viral vector and cells that will express it in a stable manner. Cells from the skin of a patient will be cultured in vitro, and genetically modified with a viral vector containing a correct version of the gene. The functionality of the genetically modified skin will be studied in vitro and in vivo after grafting onto a mouse model.