Rare genetic skin disease: advancing diagnosis, management and awareness through a European network (GENESKIN)

Grunddaten zu diesem Projekt

Beschreibung

Genetic skin diseases comprise almost 300 rare but often severe and even life-threatening diseases and syndromes. Despite recent identification of causative genes in a number of these disorders, the molecular bases of several others are still unknown, and often the function of the identified disease-gene products remains an unsolved mystery. In addition, disease number and rarity impair proper management, and no curative therapy is available. By bringing together clinicians, researchers and patient associa tions, GENESKIN aims to generate accessible knowledge and improve health care service structures for affected people. The focus is on five major disease categories: epithelial adhesion disorders, keratinization disorders, ectodermal dysplasias, connective tissue diseases, DNA repair disorders. For each group, a clinical and laboratory network will generate and disseminate: 1) a list of reference centers with services offered, 2) diagnostic questionnaires/protocols 3) gene cards, mutation database, diagnost ic reagent lists, and ongoing clinical trial list. The research topics to be co-ordinated in GENESKIN deal with: i) improved early post-natal and pre-natal diagnosis by novel immunohistochemical/biochemical and molecular tests, ii) identification of new genes involved in genetic skin diseases by collecting a sizable number of biological samples iii) definition of genotype-phenotype correlation and characterisation of newly identified gene product functions by creation of a sample Databank. Knowledge dis semination and improved management will also be insured through the organisation of involved personnel training. Finally, pan-European communication among patients' organisations, ethic committees, physicians and scientist will be promoted. The informati on regarding clinical/diagnostic protocols/lists, diagnostic and research tools and communication among different groups will be integrated and disseminated through a dedicated web site.