1. www.orpha.net Orphanet Europe State of the Art of Database and Services Polish activity Orphanet Europe State of the Art of Database and Services Polish activity Dorota Karczmarewicz, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek Department of Medical Genetics The Children’s Memorial Health Institute, Warsaw

2. www.orpha.net Who are we….. Orphanet is an international project aiming to help improve the diagnosis, care and treatment of patients with rare diseases, and to provide information on developments in research and new therapies. The infrastructure and coordination activities are jointly funded by Inserm, the French Directorate General for Health, and the European Commission. Certain services are specially funded by other partners. Orphanet’s activities in each country of the network are also financed by national institutions and/or specific contracts. Orphanet is currently represented in 38 countries and coordinated in France by a unit of the French Institute of Health and Medical Research (Inserm).

3. www.orpha.net Orphanet was established in 1997 to address identified problems….. Lack of information Encyclopaedia of rare diseases Encyclopaedia of rare diseases Scarce expertise Too few collaborations Directory of experts/clinics Directory of research projects Directory of research projects Difficult recruitment Isolation of patients Directory of clinical trials Directory of patient organisations

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5. Rare Disease & European Union Orphanet is mentioned in the documents of the European Union on rare diseases (The Commission Communication “Rare diseases: Europe’s challenge” of 11 November 2008 and the Recommendation of the Council on an Action in the field of rare diseases of 8 June 2009) as the source of current information on rare diseases inthe European Union and also as a strategic element of any national plan/strategy on rare diseases that each Member State is encouraged to develop by the end of 2013.

6. www.orpha.net Joint Action - ORPHANET Europe 1.04.2011 – 31.12.2014 In 2011, the Orphanet Europe Joint Action was launched under the EU Health Programme. This instrument combines funding from the European Commission and each of the participating Member States. The Joint Action began on the 1st of April 2011 and ended on the 31st December 2014. The overarching aim of the Joint Action was to improve and adapt the presence of Orphanet in each participating country.

7. www.orpha.net Poland in Joint Action Project 2011-2014 The beneficiary is The Children’s Memorial Health Institute Coordinating Team: Profs. Małgrzata Krajewska-Walasek and Krystyna Chrzanowska Information Scientist: Aleksandra Jezela-Stanek, M.D., Ph.D and Dorota Karczmarewicz, Msc.

8. www.orpha.net „Development of the European portal of rare disease and orphan drugs” The objective was to provide the community at large with an inventory of RD, an encyclopaedia in as many languages as possible, and a directory of expert services in the participating countries. The project to improve the update of the encyclopaedia and the update of the directory of services, to put in place a process to ensure swift management of translations, swift collection of data and validation by national health authorities before publication. The project is also to establish the governance that Orphanet deserves to ensure its mission at international level. Joint Action - ORPHANET Europe 1.04.2011 – 31.12.2014

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10. Orphanet Encyclopaedia in 6 languages so far and a selection of articles in Polish A strong asset, although not a unique resource

11. www.orpha.net Encyclopaedia 573 articles in French of which 113 for the general public and 34 emergency guidelines (334 new articles including 728 articles in English of which 9 emergency guidelines 500 summaries in Polish 9051 external links for 2599 diseases 2373 diseases indexed with Pubmed 2543 genes linked to 2544 diseases 2480 genes interfaced with UniProt KB 2521 genes interfaced with OMIM 2512 genes interfaced with Genatlas 2543 genes interfaced avec HGNC 2700 diseases indexed with clinical signs 11

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14. The database of Orphan drugs and substances 14

15. www.orpha.net The directory of expert resources in 38 countries worldwide 2551 Research laboratories 4551 Research projects on 2216 diseases 1760 Clinical trials for 500 diseases in 28 countries 1306 Registries 2392 Patient organisations 17366 Professionals referenced in the database 1633 Medical laboratories dedicated to diagnosis 27306 Medical laboratory tests for 4698 diseases and 1933 genes 5656 Expert centres 15

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19. Register your activity

20. www.orpha.net RD-ACTION 2015-2018 The Joint Action proposal (RD-action) was successfully submitted on time on the 29 January 2015 The beneficiary is The Children’s Memorial Health Institute

21. www.orpha.net General objectives ▪ Support the further development and sustainability of the Orphanet database on rare diseases which is run by a large consortium of European partners and is the biggest global repository of information about rare diseases. ▪ Contribute to solutions to ensure an appropriate codification of rare diseases in health information systems ▪ To continue implementation of the priorities identified in Council Recommendation 2009/C151/02 and the Commission Communication (COM 2008 679) on RD, with a view to ensuring the sustainability of the recommended priority actions, and to support the work of the Commission Expert Group on Rare Diseases by gathering expertise and producing data necessary to its action. RD-ACTION 2015-2018

22. www.orpha.net thank you for your attention and invite you to use the site of