Network epidermolysis bullosa: molecular pathomechanisms and novel therapeutic approaches

In October 2003 the German network of excellence "Epidermolysis bullosa: molecular pathomechanisms and novel therapeutic approaches" initiated its activities. The network partners are physicians and scientists working on epidermolysis bullosa (EB), basement membranes and structural proteins. The clinical partners and associated specialists improve interdisciplinary management of patients with EB and coordinate diagnostic and therapeutic procedures. Efficient molecular diagnostics consisting of antigen mapping and mutation analysis is offered in specialized centers. Using a highly productive information technology infrastructure, a central internet-based patient registry contains clinical,genetic and molecular data. The registry provides a platform for genotype-phenotype studies, epidemiological investigations, and for the identification of patients for future molecular therapies. Mouse models of different EB subtypes help elucidate causal disease mechanisms. Further scientific projects aim at understanding the normal mechanisms of epidermal adhesion to basement membranes, and protein-protein- and cell-ligand interactions, and their physiological regulation. These results will provide a foundation for developing novel therapeutic approaches for the causal treatment of EB.