Mission
The GENESKIN
project aims to disseminate knowledge and awareness, improve
diagnosis and management and facilitate access to innovative
treatment options for rare genetic skin diseases.
The main
objectives of this project are:
- to collect and disseminate across Europe medical data on
specific groups of genetic skin diseases. The data is
addressed to both professionals and the general public;
- to test, validate and integrate diagnostic and research
tools for these diseases;
- to organise training courses and meetings on specific
aspects of the diseases;
- to promote pan-European communication pathways between
patients’ organizations, ethics committees, physicians and
scientists.
Activities
The project is focused on five groups of rare
genetic skin diseases: ectodermal dysplasias, and disorders of
epithelial adhesion, keratinisation, connective tissue and DNA
repair.
Four major areas of activity have been
identified:
- Information: a dedicated website (GENESKIN website),
through which both professional and non-professional users
can access understandable, comprehensive and updated
information on disease features, diagnosis and care.
- Diagnosis of selected diseases: (i) to test and validate
antibodies and other biological tests to be used for
diagnosis; (ii) to standardise and test techniques for
mutation analysis; (iii) to facilitate the exchange of
biological samples for diagnostic and research purposes;
(iv) to establish a virtual sample database.
- Training: organization of courses and meetings for
medical, healthcare and laboratory personnel on specific
clinical, diagnostic and management aspects.
- Communication: (i) to foster dialogue between
professionals and patients’ associations by organizing
regular interaction and combined activities for medical
staff and the general public; (ii) to promote the
set-up of a European network of GENESKIN ethics experts;
(iii) to raise public awareness of rare genetic skin
diseases.
Participants
The project is run by a Consortium of 32
clinical and laboratory expert groups from 12 European
countries.
Participants list:
1A) Dr. Giovanna Zambruno,
Rome, Italy
1B) Dr. Giandomenico Russo, Rome, Italy
2A)
Dr. Miria Stefanini, Pavia, Italy
2B) Dr. Michele D’Urso,
Naples, Italy
3) Prof. Ivonne Ronchetti, Modena,
Italy
4) Prof. Leena Bruckner-Tuderman, Freiburg,
Germany
5) Prof. Heiko Traupe, Münster, Germany
6) Dr.
Hans Christian Hennies, Cologne, Germany
7) Prof.
Karl-Heinz Grzeschik, Marburg, Germany
8) Prof. John
Alexander McGrath, London, United Kingdom
9A) Prof. Irene
May Leigh, Dundee, United Kingdom
9B) Prof. David Peter
Kelsell, London, United Kingdom
10) Prof. Alan Lehmann,
Brighton, United Kingdom
11) Dr. Malcom B. Hodgins and
Prof. Colin S. Munro, Glasgow, Scotland - United
Kingdom
12) Mr. John Richard William Dart, Crowthorne,
United Kingdom
13) Dr. Alan David Irvine, Dublin,
Ireland
14A) Dr. Guerrino Meneguzzi, Nice, France
14B)
Prof. Alain Hovnanian, Toulouse, France
14C) Prof. Alain
Taieb, Bordeaux, France
15) Prof. Jean-Paul Ortonne and
Prof. Jean-Philippe Lacour, Nice, France
16) Dr. Alain
Sarasin, Villejuif, France
17) Prof. Christine Bodemer,
Paris, France
18) Dr. Judith Fischer, Evry, France
19)
Prof. Daniel Hohl, Lausanne, Switzerland
20) Prof. Anne De
Paepe, Gent, Belgium
21) Prof. Jan H.J. Hoeijmakers,
Rotterdam, Netherlands
22) Prof. Marcel F. Jonkman,
Groningen, Netherlands
23) Dr. Antonio Bernad, Madrid,
Spain
24) Prof. Robert Strohal, Feldkirch, Austria
25)
Prof. Johann W. Bauer, Salzburg, Austria
26) Prof.
Sarolta Karpati, Budapest, Hungary
27) Prof. Anders
Vahlquist, Uppsala, Sweden
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