Molecular therapies for heritable blistering diseases

Tremendous progress has been made over the past two decades in understanding the molecular genetics of heritable skin diseases. The paradigm for such conditions is epidermolysis bullosa (EB), which comprises a group of heritable blistering disorders caused by mutations in ten genes expressed in the cutaneous basement membrane zone and has high morbidity and mortality. Identification of distinct mutations has improved the diagnosis and subclassification of EB, leading to improvements in disease prognosis, and has provided a basis for prenatal and pre-implantation genetic diagnosis for this disorder. Nevertheless, there is no cure or effective treatment for EB. Here, we review recent exciting developments in the areas of molecular therapies, including gene therapy, protein replacement therapy and bone-marrow-derived stem cell transfer, as potential new avenues to treat EB and other currently intractable heritable skin diseases.