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.
A European Consortium of clinicians, researchers and patients’ associations initiated the GENESKIN project with the aim to advance diagnosis, management and awareness of genodermatoses. The GENESKIN project was funded by the European Commission (contract LSHM-CT-2005-512117) between 2005 and 2008. In 2011 the EDF has taken over responsibility to manage the website.
The GENESKIN project has focused on five major groups of genodermatoses, namely epithelial adhesion, keratinization, connective tissue and DNA repair disorders, and ectodermal dysplasias. For these disease groups, major achievements of the original GENESKIN project have been:
- the development of the GENESKIN website which provides information for both professional and non-professional users. Specifically, GENESKIN makes available disease overviews together with lists of European clinical, diagnostic and research centres, ongoing clinical trials and patients’ associations. For selected diseases, diagnostic questionnaires/protocols, mutation and diagnostic reagent lists are also made available to professionals
- the setting-up and validation of diagnostic tools and the support to research on genetic skin diseases through the exchange of samples and information (41 published articles acknowledging the GENESKIN project)
- the organization of training activities on specific disease groups, and of experts’ meetings on specific topics (seventeen events organized in eight different European countries, with 665 participants)
- The strengthening of relationships with patients’ support groups
- The set-up of an ethical expert group and development of an ethical document on genetic counselling related to genodermatoses.