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Project 9: Molecular disease mechanisms and novel therapeutic strategy for dystrophic EB

Dystrophic EB (DEB), caused by collagen VII mutations, exhibits structural and functional abnormalities of the anchoring fibrils. This project will perform parallel investigations of human skin and hypomorphic DEB mouse model to assess molecular disease mechanisms and phenotype modifying effects in DEB. These questions will be addressed using molecular genetics, protein biochemistry, cell biology and ultrastructural analysis. In addition, the suitability of allogeneic fibroblasts will be tested for therapeutic strategies.

Prof. Dr. med. Leena Bruckner-Tuderman
Universitätsklinikum Freiburg
Hauptstr. 7
D-79104 Freiburg
E-mail: leena.bruckner-tuderman@uniklinik-freiburg.de