Study of biological mechanisms involved in heritable connective tissue disorders, using the Ehlers-Danlos Syndrome as a paradigm

This project aims at the identification of new genes for various Ehlers-Danlos syndrome (EDS) subtypes, a heritable genodermatosis, as well as the analysis of the function of ZNF469, found to contain mutations in the Brittle Cornea Syndrome, a condition overlapping with EDS, and finally the creation of a mouse model for the vascular EDS subtype.