Observatory on Hereditary Connective Tissues Diseases (OCE)

The OCE pursues the following aims: - develop knowledge on hereditary connective tissue diseases with prevalent cutaneous, musculoskeletal and vascular involvement, both from a clinical and molecular point of view. - define specific clinical and molecular approaches for the diagnosis of rare and ultra-rare hereditary connective tissue diseases. - define the genetic basis of hypermobile Ehlers-Danlos syndrome and related phenotypes. - investigate the pathogenetic mechanisms of hereditary connective disorders also in view of targeted therapeutic approaches. - define updated and effective guidelines for early diagnosis and for an adequate multidisciplinary support for patients with hereditary connective disorders. - set up the Italian registry of patients suffering from Ehlers-Danlos syndromes in collaboration with Italian diagnostic centers and specialists. - promote the dissemination of knowledge on hereditary connective disorders, at local, national and international level between specialists, patient associations and patients.