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European
Union funded research |
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Project
name:
Rare genetic skin diseases: advancing diagnosis,
management and awareness through a European networkProject acronym: GENESKIN
Project type: Coordination Action
European Commission Research Programme: 6th FP "Life Sciences,
Genomics and Biotechnology for Health"
European Commission grant: €1.2 million
AIMS |
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Concerned
with all genetic skin diseases (300), covering 5 major disease categories:
- epithelial adhesion disorders (Epidermolysis Bullosa, Kindler syndrome etc)
- keratinisation disorders
- ectodermal dysplasias
- connective tissue diseases
- DNA repair disorders
1 For each group, a clinical and laboratory network will generate and disseminate:
- a list of reference centres with the services offered
- diagnostic questionnaires/protocols
- gene cards, mutation database, diagnostic reagent list
- ongoing clinical trial list
2 Whilst not directly funding research it will coordinate:
- improved early post-natal and pre-natal diagnosis by novel
immunohistochemical/biochemical and molecular tests
- identification of new genes involved in genetic skin disease by collecting a sizeable
number of biological samples
- definition of genotype/phenotype correlation and characterisation of newly identified
gene product functions by creation of a sample databank
3 Improved management of the conditions by training of clinicians and scientists
4 Pan-European communication amongst patient organisations, ethics committees,
physicians and scientists
5 Information dissemination using a dedicated website
Partner organisations
Istituto Dermopatico dell’Immacolata (IT)
Project Co-ordinator
Istituto di Genetica Molecolare-Consiglio Nazionale delle Richerche (IT)
Universita di Modena e Reggio Emilia (IT)
Institute of Genetics & Biophysics-Consiglio Nazionale delle Ricerche (IT)
Universitaetsklinik Freiburg (DE)
University Hospital Muenster (DE)
Max Delbruck Centre for Molecular Medicine (DE)
Philipps-Universitaet Marburg (DE)
Kings College London (UK)
Queen Mary & Westfield College London (UK)
University of Sussex (UK)
University of Glasgow (UK)
DEBRA Europe (based in UK)
Our Lady’s Hospital for Sick Children (IE)
INSERM U385 (FR)
Centre Hospitalier Universitaire de Nice (FR)
Hopiteaux de Toulouse (FR)
Centre National de la Recherche Scientifique (FR)
Centre Hospitalo-Universitaire Necker Enfants Malades (FR)
University V Segalen Bordeaux 2 & INSERM E207 (FR)
Consortium National de Recherche en Genomique (FR)
Centre Hospitalier Universitaire Vaudois (CH)
Centre for Medical Genetics (BE)
Erasmus Medical Centre (NL)
Rijksuniversiteit Groningen (NL)
Spanish Consortium for the development of new treatments for EB (ES)
Federal Academic Hospital of Feldkirch (AT)
General Hospital Salzburg, Paracelsus Medical University (AT)
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