Investigation of the molecular basis of the Ehlers-Danlos Syndrome, a genetic model for the study of joint hypermobility

Joint hypermobility is a prominent feature of diverse connective tissue diseases a.o. the Ehlers-Danlos syndrome. Little is known about the genetic basis of joint hypermobility and genetic heterogeneity is suggested. In this project a recently identified candidate locus for the hypermobile subtype of EDS will be analysed by next generation sequencing in order to identify the causal genetic defect. In a next step, the genome of a cohort of hypermobile EDS patients will be screened on genomic alterations by means of CGH. In a last step, variations in the proteome and the secretome of hypermobile EDS patients will be evaluated by means of proteomics based technology.