Workshop 4 - Research "Presentation of the RD Platform fact finding study on the trends and determinants of rare disease research" Virginie Hivert, Orphanet, France

1. Presentation of the RD Platform fact finding study on the determinants of rare disease research trends Eurordis Membership Meeting Amsterdam, 14 May 2011 Virginie Hivert Ségolène Aymé Orphanet

4. Research Death valley Development Critical mass of articles Pharmaceutical Innovation / Performance of country Experience of company on R&D Availability of registries Research into aetiology / pathophysiology Collaboration clinicians / researchers Academic funding Diagnostic test Registries Ideas Hypothesis Plausible assumption Evidence for marketing authorisation

5. Research in the field of RD: where do we stand ? 3880 research projects for 2100 rare diseases in 27 countries 2369 genes associated to 2306 rare diseases (2147 genes associated to 2134 rare diseases with exclusion of rare tumors and syndromes with predispositon to cancer) Stage of research Number of Projects Basic research 2750 Pre-clinical research 331 Clinical research 487 Diagnostic & Biomarkers 312

6. Number of research projects by disease classed by prevalence CF Diseases which are rare forms of non-rare diseases, and which beneficiate of research on general aspects of the group of diseases Basic research goes on independantly from prevalence

7. Major advances in gene identification translating into diagnostic tests Number of genes tested by country Top 25 of diseases tested in the greatest number of European countries

9. 514 Registries as strategic tools Medical areas concerned by patient registries Number of patient registries by country Patient registries coverage

14. Thank you for your attention May our dreams become true with the development of IRDiRC (International Rare Disease Consortium) – Montreal, October 2011