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ORPHANET 3 (Phase 3) Programme of community action on rare diseases Contract 2002/CVG4 ORPHANET : Intermediate scientific report May 2003 Summary The project was to extend the content of the already existing ORPHANET database to build up a truly European database. The first year (Dec 00-November 01) was the feasibility study year and a pilot study with four countries. The second year (Dec 01- Nov 02) was the year of the move from a French encyclopaedia to a European one, and the year of the collection of data on services in 7 countries. The third year (Dec 1,2002 – Nov 03) is the year of the data collection up to completeness in 7 of the participating countries and the year of identification of sources and satrt of the data collection in the new country: Portugal.. For the encyclopaedia, a board of 83 editors has been established progressively, specialty by specialty and authors of texts nominated. For the 3,500 diseases, there are on-line: 990 summaries in French, 833 summaries in English, 445 review articles in French or in English. The data about services are partially collected in all participating countries and already released for Italy, Belgium, Switzerland, Germany and Spain. The amount of data released is: 594 patient support groups, 945 laboratories providing diagnostic tests, 1392 research projects and 945 expert clinics. The Italian, German and Spanish versions of the website are now active. The usefulness of the database is assessed through the number of connections. In April 2003, we have had during the month visits from 101,400 different visits from 113 different countries. The Orphanet project is developing according to the plans. The procedures are now well in place and should be easily adopted by the new partners. National funding is securing the activities in France, Italy and Spain. Several countries are on the way of having national complementary funding as well. Final scientific report, february 2003 2/ 23 List of partners Subject : ORPHANET Pr Jean-Pierre Fryns Director of the Center for Human Genetics University of Leuven BELGIUM Campus Gasthuisberg Herestaat 49 B-3000 LEUVEN Tel : 00 32 16 34 58 60 Fax : 00 32 16 34 59 97 Pr Joerg Schmidtle Department of Human Genetics GERMANY Carl6Neuberg-Str. 1 D-30625 Hannover Tel : 00 49 511 532 6537 Fax : 00 49 511 532 5865 Pr Bruno Dallapiccola Istituto CSS – Mendel ITALY Viale Regina Margherita 261 00196 ROMA Tel : 39 06 44 16 05 03 Fax : 39 06 44 16 05 48 Dr Celia Delozier-Blanchet Institute of Medical Genetics SWITZERLAND : CMU 1, rue Michel – Servet CH-1211 GENEVE 4 Tel : 00 41 22 702 57 07 Fax : 00 41 22 702 57 06 Pr Gerd Utermann Institut für Medizinische Biologie und Humangenetik Der Universität Innsbruck AUSTRIA Schöpfstrasse 41 A-6020 INSBRUCK Tel : 00 43 512 50 73 450 Fax : 00 43 512 50 72 861 Dr Miguel Del Campo Universitat Pompeu Fabra SPAIN Department Cieucies Experimentals Facultat Ciencies de la Salut Dr Aiguader 80 08003 BARCELONA Pr Margarida Reis Lima Instituto de Genetica Medica PORTUGAL Praça Pedro Nunes,88 P-4050-466 PORTO Tel : 00 351 22 607 03 07 Fax : 00 351 22 607 03 99 Final scientific report, february 2003 3/ 23 Intermediate scientific report December 2002- May 2003 Goal of the EC funded project The project was to extend the content of the already existing ORPHANET database to build up a truly European database. The first year (Dec 00-November 01) was the feasibility study year and a pilot study with four countries. The second year (Dec 01- Nov 02) was the year of the move from a French encyclopaedia to a European one, and the year of the collection of data on services in 7 countries. The third year (Dec 1,2002 – Nov 03) is the year of the data collection up to completeness in 7 of the participating countries and the year of identification of sources and satrt of the data collection in the new country: Portugal.. The European project has two parts: 1- the establishment of an on-line Encyclopaedia on rare diseases 2- the extension of the existing directory of services to services in 7 European countries. 1- The on-line Encyclopaedia 1.
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