Community Research and Development Information Service - CORDIS

FP6

GENESKIN — Result In Brief

Project ID: 512117
Funded under: FP6-LIFESCIHEALTH
Country: Italy

Softening up the effects of genetic skin diseases

Genetic skin disorders torment thousands of people and their families lowering their quality of life and threatening their life. European scientists joined their expertise in a common strategy against these awful diseases.
Softening up the effects of genetic skin diseases
Genetic skin diseases (GSDs), known as genodermatoses, are heritable disorders affecting the skin and its appendages. They comprise a heterogeneous group of disorders of nearly 300 distinct and rare clinical entities. They are often severe and even life threatening with poor early diagnosis due to the lack of diagnostic tests and expertise in most of the cases.

Moreover, despite the recent identification of causative genes in some of these conditions, there are no sufficient therapies and clinical management of patients. Consequently, there is a significant psychosocial and economical impact on the life quality of both patients and their families.

In order to enhance and strengthen the cooperation of European groups in the field of genodermatoses towards the improvement of diagnosis and treatment, the EU-funded project ‘Rare genetic skin disease: advancing diagnosis, management and awareness through a European network’ (Geneskin) was initiated.

Geneskin scientists primarily focused on five common types of GSDs, including epithelial adhesion, keratinisation, connective tissue and DNA repair disorders, and ectodermal dysplasias. The first step was the establishment of a European clinical and diagnostic network for these disorders. Within this network the available diagnostic and research tools were optimised, tested, validated and integrated.

Furthermore, the clinicians and healthcare and laboratory personnel within the consortium were trained on clinical, diagnostic and management aspects. Last but not least, the network and its interactions were expanded to include patients' organisations, ethics committees, physicians and scientists. An ethical document on genetic counselling related to genodermatoses was also developed.

A Geneskin website was created to accommodate and disseminate all the available information for both professional and non-professional users. Disease overviews, ongoing clinical trials, patients’ associations and a list of European clinical, diagnostic and research centres are available on the website. For professionals, more specific information is organised and easily accessible through the website, including diagnostic protocols, mutation databases and diagnostic reagent lists.

The European network developed under the wings of Geneskin brought together clinicians, researchers and patients’ associations in a common effort to fight GSD. The impact of this effort on the European community will be visible in the near future.

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