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A health care professional testimony. Who is online Users browsing this forum: The Encyclopaedia covered diseases with abstracts in French and in English for all and a review article for of them, either in French or in English.

The sustainability of Orphanet must now be considered. Internet resources fort the rare disease community. Luxembourg, 21 June Who could help me?

genetica medicala mircea covic pdf printer

Partner Activities The establishment of a Directory of Services can only be achieved by consolidation of data collected at the MS level geentica the identification of the expert resources requires a very good knowledge of the national research and health care networks.

Manpower in Portugal The collection of data on services required 73 days of the coordinator and days of an information scientist.

An analysis of the situation regarding genetic testing is ongoing in collaboration with EuroGenTest, an EU funded network of mediclaa. April March Clinical laboratories 1, Specialised clinics 1, 2, Research projects 1, 4, Clinical trials Support groups 1, Professionals 4, 9, Total 8, 19, The total amount of data has, therefore, increased by 2. As we were not satisfied with the service in terms of security of the server, we established a partnership with the Informatics Department of Inserm and transferred the Orphanet server to the Medicalz Central Informatics Facility in Villejuif, in February Manpower in Germany The collection of data on services required days of an information scientist.


From Clinical signs to syndrome – for free. General differences in genetic testing and counseling in Europe: The Orphanet project,Symposium on Wilson Disease. Rev Epid Sante Publique Adrian Covic — Prorector, Ing.

Orphanet, genetixa ans au service des maladies rares, Paris, France, 15 February Irish team: Manpower for the execution of activities 1.

It is in charge of advising the executive board on micea relevant matters and of validating the data before it is released. Workshop on rare diseases of the Austrian presidency of the European Union. Il Giornale del Linguaggio Universale: At the end of Marchthe average number of visits per day was approximately 22, from over countries.

Josep Font Internal medicine Prof.

Orphanet: Centrul de Genetica Medicala Iasi

It meets once a year and decides on the quality charter, the evolution of mirea database, the budget, and the dissemination of information. The number of articles and summaries by year is illustrated on Figure 4. The list was updated through a permanent survey of the medical and scientific literature.

At that time, the Encyclopaedia of rare diseases was available both in English and French and translation into German, Italian, Spanish and Portuguese was projected. Strategia pentru Cercetare si Inovare Regionala prin Through the establishment of a network of European partners, the consolidation of scarce and scattered rare disease information and resources has addressed a great unmet need of the rare disease community.

This was possible thanks to the long-term commitment of the French public institutions Ministry of Health and Inserm. These gwnetica are accessible from the EU health portal. Francesco Muntoni Neuromuscular diseases Prof. Cem GabayGeneva, 21st September Communications: Thomas Voit Pediatrics neurology Prof. Another goal was also to expand data collection to include diagnostic laboratories, specialised clinics, research projects and clinical trials in Bulgaria, Cyprus, Denmark, Estonia, Finland, Greece, Hungary, Lithuania, Ireland, Netherlands, Romania, United Kingdom.


The production of the Encyclopaedia required 1, days of an editor. The supervision of the data collection, training and quality control required days of genehica data manager. Alain Fischer Pediatrics immunology Prof.

Internet au service des maladies rares. Manpower in Greece The collection of data on services required days of an information scientist. Figure 3 b Encyclopaedia As of Marchthe Orphanet Encyclopaedia contained 2, summaries in English, 2, summaries in French, 1, summaries in Italian, summaries in Spanish, 1, summaries in German, summaries in Portuguese, review articles in French and review articles gehetica English. Activities foreseen The foreseen activities were conducted over a period of 36 months from 1 April to 31 March Dachman, Andrea Laghi, The data collection genetlca services is continually in progress in all participating countries.

The collection of data on services required days of an information scientist. The hardware and software aspects of the genwtica included the management of the Unix server over 20, connections per day and transactions per day to update the data and the development of new tools to collect and update information. Satisfaction of users An online survey was performed in April to better medivala the needs of end users and assess their satisfaction.

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