SUMMARY OF RESEARCH BEING UNDERTAKEN

Patients with mild forms of junctional epidermolysis bullosa (JEB) are faced with disabling disorders that compromise life quality. The identification of the causative genetic mutations has paved the way for the development of somatic gene therapy in these conditions. The researchers have recently shown that transfer of a gene restoring the expression of laminin-5 in JEB keratinocytes regenerates artificial epithelia presenting the adhesion properties of healthy skin. This is the first evidence that a genetic treatment of inherited bullous conditions is a realistic goal.

Using animals with a mild form of JEB, the group have perfected a model system of somatic gene therapy of the disease. This research project is aimed at the cure of wounds and erosions of the skin of the JEB animals by transplantation of artificial epidermis made with the keratinocytes of the host treated in vitro by gene therapy. Successful grafting of the engineered epithelia on these animals will validate the gene therapy approach for EB