From variome to phenome: study of genetic defects underlying the heritable connective tissue disorder Ehlers-Danlos syndrome, and their pathogenic consequences on extracellular matrix organisation and function

In some patients with Ehlers Danlos syndrome (EDS), a clinical, molecular and pathogenic overlap is seen with patients suffering from inherited myopathies. This research aims to study this overlap and the biological consequences of defects in the different molecules that are associated with these disorders. In addition, we will continue the search for candidate genes for molecularly unresolved EDS phenotypes.