About Geneskin website
Aim
The Geneskin website is built around an on-line database dedicated to rare genetic diseases of the skin. Its aim is to disseminate knowledge about these disorders and to improve their diagnosis, treatment and care. Specific sections of the site illustrate the clinical, laboratory and research aspects of various diseases.
Intended Audience
The Geneskin website is intended for both a medical and a non-medical audience, i.e. patients and their families, healthcare providers, researchers, companies and regulators. Specific services on disease features and diagnosis are addressed either to a general public or to professionals.
Services
The Geneskin website is a comprehensive collection of clinical, laboratory and research data on five major groups of diseases mainly affecting the skin (epithelial adhesion, keratinisation, connective tissue and DNA repair disorders, and ectodermal dysplasias).
A free-access area is available to patients, their relatives and the general public. Information provided in this area includes: a general description of each group of diseases, the respective European centres offering clinical, diagnostic and research services, ongoing clinical trials, patients’ associations and related websites.
A restricted access area is provided for professionals giving additional information on the diseases in the respective groups, e.g. a description with key clinical features, diagnostic tests and procedures, tools for laboratory diagnosis.
Maintainers
The Geneskin website is maintained by the EDF. A steering committee, chaired by Prof. Johann W. Bauer, oversees its updating and has appointed coordinators for each group of diseases.
Geneskin steering Committee members
- Johann W. Bauer, Salzburg, Austria (c.kulic@salk.at), chair
- Leena Bruckner-Tuderman, Freiburg Germany (bruckner-tuderman@uniklinik-freiburg.de)
- Alain Hovnanian, Paris, France (alain.hovnanian@inserm.fr)
- Peter M. Steijlen (peter.steijlen@mumc.nl), Maastricht, the Netherlands
- Giovanna Zambruno (giovanna.zambruno@gmail.com), Rome, Italy
Geneskin disease group coordinators
| Disease group | Coordinator |
|---|---|
| Epithelial adhesion disorders | Leena Bruckner-Tuderman, Freiburg Germany (bruckner-tuderman@uniklinik-freiburg.de), Johann W. Bauer, Salzburg, Austria (c.kulic@salk.at) |
| Keratinization disorders | Alain Hovnanian, Paris, France (alain.hovnanian@inserm.fr), Matthias Schmuth, Innsbruck, Austria (matthias.schmuth@i-med.ac.at) |
| Ectodermal dysplasias | Giovanna Zambruno, Rome, Italy (giovanna.zambruno@gmail.com) |
| Connective tissue disorders | Anne De Paepe, Ghent, Belgium (Anne.DePaepe@UGent.be) |
| DNA repair disorders | Miria Stefanini, Pavia, Italy (stefanini@igm.cnr.it) |