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

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

Objective

Genetic skin diseases comprise almost 300 rare but often severe and even life-threatening diseases and syndromes. Despite recent identification of causative genes in a number of these disorders, the molecular bases of several others are still unknown, and often the function of the identified disease-gene products remains an unsolved mystery. In addition, disease number and rarity impair proper management, and no curative therapy is available. By bringing together clinicians, researchers and patient associations, GENESKIN aims to generate accessible knowledge and improve health care service structures for affected people. The focus is on five major disease categories: epithelial adhesion disorders, keratinization disorders, ectodermal dysplasias, connective tissue diseases, DNA repair disorders. For each group, a clinical and laboratory network will generate and disseminate: 1) a list of reference centers with services offered, 2) diagnostic questionnaires/protocols 3) gene cards, mutation database, diagnostic reagent lists, and ongoing clinical trial list. The research topics to be co-ordinated in GENESKIN deal with: i) improved early post-natal and pre-natal diagnosis by novel immunohistochemical/biochemical and molecular tests, ii) identification of new genes involved in genetic skin diseases by collecting a sizable number of biological samples iii) definition of genotype-phenotype correlation and characterisation of newly identified gene product functions by creation of a sample Databank. Knowledge dissemination and improved management will also be insured through the organisation of involved personnel training. Finally, pan-European communication among patients' organisations, ethic committees, physicians and scientist will be promoted. The information regarding clinical/diagnostic protocols/lists, diagnostic and research tools and communication among different groups will be integrated and disseminated through a dedicated web site.

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Coordinator

PROVINCIA LTALIANA DELLA CONGREGAZIONE DEI FIGLI DELL'LMMACOLATA CONCEZIONE - LSTITUTO DERMOPATICO DELL'LMMACOLATA'

Address

Via Dei Monti Di Creta, 104
Roma

Italy

Administrative Contact

Giovanna ZAMBRUNO (Dr)

Participants (28)

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CONSIGLIO NAZIONALE DELLE RICERCHE

Italy

UNIVERSITA' DI MODENA E REGGIO EMILIA

Italy

UNIVERSITAETSKLINIKUM FREIBURG FUR DIE MEDIZINISCHE FAKULTAT DER ALBERT-LUDWIGS-UNIVERSITAT

Germany

UNIVERSITY HOSPITAL MUENSTER

Germany

UNIVERSITY OF COLOGNE - UNIVERSITY HOSPITAL

Germany

PHILIPPS-UNIVERSITAET MARBURG

Germany

KINGS COLLEGE LONDON

United Kingdom

QUEEN MARY & WESTFIELD COLLEGE, UNIVERSITY OF LONDON

United Kingdom

THE UNIVERSITY OF SUSSEX

United Kingdom

UNIVERSITY OF GLASGOW

United Kingdom

DEBRA EUROPE

United Kingdom

OUR LADY'S HOSPITAL FOR SICK CHILDREN

Ireland

INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE

France

CENTRE HOSPITALIER UNIVERSITAIRE DE NICE

France

CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE

France

ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS

France

CONSORTIUM NATIONAL DE RECHERCHE EN GENOMIQUE

France

HOSPICES CANTONAUX - CENTRE HOSPITALIER UNIVERSITAIRE VAUDOIS

Switzerland

UNIVERSITEIT GENT

Belgium

ERASMUS MEDICAL CENTER ROTTERDAM

Netherlands

ACADEMISCH ZIEKENHUIS GRONINGEN

Netherlands

ASOCIACION DE EPIDERMOLISIS BULLOSA DE ESPANA

Spain

FEDERAL ACADEMIC HOSPITAL OF FELDKIRCH

Austria

GEMEINNUTZIGE SALZBURGER LANDESKLINIKEN BETRIEBSGESELLSCHAFT MBH

Austria

SEMMELWEIS UNIVERSITY

Hungary

UPPSALA UNIVERSITET

Sweden

UNIVERSITY OF DUNDEE

United Kingdom

COMMISSARIAT À L'ÉNERGIE ATOMIQUE

France

Project information

Grant agreement ID: 512117

  • Start date

    1 July 2005

  • End date

    30 June 2008

Funded under:

FP6-LIFESCIHEALTH

  • Overall budget:

    € 1 415 021

  • EU contribution

    € 1 238 199

Coordinated by:

PROVINCIA LTALIANA DELLA CONGREGAZIONE DEI FIGLI DELL'LMMACOLATA CONCEZIONE - LSTITUTO DERMOPATICO DELL'LMMACOLATA'

Italy