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The GENESKIN project activities are organized in four main objectives, as follows:
1) To create a European clinical and diagnostic network for the following groups of genodermatoses: epithelial adhesion, keratinization, connective tissue and DNA repair disorders and ectodermal dysplasias.
For each group of diseases, clinicians and researchers generate and update:
- descriptions of each disease or group of diseases, including a list of key clinical features which can be helpful for health care professionals;
- model questionnaires and protocols for diagnosis, and reagent lists for laboratory activities;
- gene cards and mutation data bases;
- a list of centres providing clinical, diagnostic and research services for each disease or disease group;
- a list of clinical trials, disease-related websites and reports on new advances in scientific knowledge.
This information is made available to both professional and non-professional users through this website.
2) To improve diagnosis of the above mentioned five groups of genodermatoses by integrating, testing and validating diagnostic and research tools.
This point deals with the recognition, validation, and standardisation of new diagnostic procedures by testing novel immunohistochemical/enzymatic and molecular tools. A further aim is to facilitate biological sample exchange in order to identify new disease genes and characterise disease mechanisms. For this activity, the GENESKIN website represents a useful tool for information and data exchange among project participants and to update on project advancement.
3) To promote the training of clinicians, healthcare and laboratory personnel in the clinical, diagnostic and management aspects of specific diseases, and to organize meetings on critical emerging topics.
Individual and group training courses/workshops/meetings are organized for physicians/healthcare and laboratory personnel to disseminate knowledge about clinical presentation, diagnostic procedures and the management of specific diseases on a European scale. Training also concerns psycho-social and ethical aspects. A specific section of the GENESKIN website (“Training”) provides details on planned training activities.
4) To promote pan-European communication pathways between professionals and non-professionals, as well as accompanied alliances between patients’ organizations, ethics committees, physicians and scientists.
In particular, the GENESKIN project coordinates all necessary activities to link physicians/scientists with public, non-medical groups and provide a structured, balanced and regular dialogue. Additionally, a European GENESKIN Committee of ethics experts has been established to discuss the emerging psycho-social implications of genetic tests and rare diseases. To examine specific ethics and social topics, satellite meetings alongside GENESKIN congresses/training courses are planned.
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