Genetic diseases of the skin, or genodermatoses, comprise almost 300 rare, but often severe and even life-threatening conditions. Despite recent advances in the molecular genetics of dermatological inherited disorders, the genes responsible for various genodermatoses remain unknown, and the pathogenesis of a larger group is still poorly understood. This lack of knowledge, together with the rarity of the conditions and the considerable number of genodermatoses, hampers the proper management of affected individuals and is a major obstacle to the design of curative therapies. The European Community funded GENESKIN project is run by a European Consortium of clinicians, researchers and patient associations and aims to improve health care services for genodermatoses.
GENESKIN focuses on five major groups of genodermatoses, namely epithelial adhesion, keratinization, connective tissue and DNA repair disorders, and ectodermal dysplasias. For these disease groups, GENESKIN provides and updates information for both professional and non-professional users through this website. Specifically, GENESKIN makes available disease overviews together with lists of European clinical, diagnostic and research centres, ongoing clinical trials and patients’ associations. Diagnostic questionnaires/protocols, gene cards, mutation databases and diagnostic reagent lists are also made available to professionals.
In parallel, GENESKIN coordinates the development, testing and validation of novel specific procedures for early pre- and post-natal diagnosis. The identification of novel disease-genes and studies on disease pathogenesis are also supported.
In addition, the dissemination of knowledge and improved care for genetic skin diseases are fostered through the organisation of specific training activities. Finally, communication among patients’ organisations, ethic experts, physicians and scientists is promoted in order to raise the public awareness on these diseases.