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

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

The ultimate aim of the GENESKIN project was to actively support the cooperation between the European expert groups in the field of genetic skin diseases and promote the dissemination of knowledge concerning the improvement of the diagnosis, treatment and care of genodermatoses. The project focused on five major groups of genodermatoses, namely epithelial adhesion, keratinisation, connective tissue and DNA repair disorders, and ectodermal dysplasias, and set out the following objectives:
- create a European clinical and diagnostic network for the five above-mentioned groups of genetic skin diseases;
- integrate, test, and validate diagnostic and research tools for these diseases;
- promote the training of clinicians, healthcare and laboratory personnel on clinical, diagnostic and management aspects of specific disease group and organise meetings on critical emerging topics;
- promote pan-European communication pathways between patients' organisations, ethic committees, physicians and scientists, as well as close accompanied alliance of patients' organisations and ethic committees with physicians and scientists.

With regard to these disease groups the project succeeded in the following:
- the development of the GENESKIN website which provided information for both professional and non-professional users. Specifically, GENESKIN made 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 databases and diagnostic reagent lists were also made available to professionals;
- the set-up and validation of diagnostic tools and the support to research on genetic skin diseases through the exchange of samples and information;
- the organisation of individual training courses on specific disease groups;
- the set-up of an ethical expert group and development of an ethical document on genetic counselling related to genodermatoses.

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