IRDiRC: Stepping stones towards success Ruxandra Draghia-Akli, MD, PhD, Deputy Director-General

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1 IRDiRC: Stepping stones towards success Ruxandra Draghia-Akli, MD, PhD, Deputy Director-General DG Research and Innovation, European Commission

2 IRDiRC: Stepping stones towards success Ruxandra Draghia-Akli, MD, PhD, Deputy Director-General DG Research and Innovation, European Commission

3 First bilateral EU/USA reflections on cooperation in rare disease research eighton collins, # , Source: Fotolia.com

4 Fostering Transatlantic Cooperation on Research into Rare Diseases: European Union USA Bilateral Workshop on Rare Diseases and Orphan Products; October 2010, Reykjavik, Iceland

5 Launching IRDiRC in 2011: Headline goal 200 New Therapies and Means to Diagnose Most Rare Diseases by 2020 eighton collins, # , Source: Fotolia.com

6 Launch Meeting International Rare Disease Research Consortium IRDiRC, April 6, 2011 NIH, Bethesda, MD - USA

7 CIHR Genome Canada NHGRI (NIH) NHGRI (NIH) NCATS (NIH) NCATS (NIH) NCI (NIH) NCI (NIH) NEI (NIH) NEI (NIH) NINDS (NIH) NINDS (NIH) NIAMS (NIH) NIAMS (NIH) NICHD (NIH) NICHD (NIH) Office of Rare Diseases (NIH) Office of Rare Diseases FDA OP Grants Program (NIH) NKT Therapeutics Sanford Research PTC Therapeutics Institute Ionis Pharmaceuticals Sanford Research Institute Genzyme Pfizer Genetic Alliance NORD European Commission ANR AFM-Téléthon EC BMBF ANR ISS AFM-Téléthon Fondazione BMBF Telethon Instituto ISS de Salud Carlos III NIHR Fondazione Telethon ZonMw Prosensa EORTC Instituto de Salud E-Rare Carlos III Academy NIHR of Finland FR ZonMw Foundation for RD Lysogene CNHMG Georgia Chiesi Farmaceutici Shire Roche EURORDIS IRDiRC Members Saudi Human Gene Project Korea NIH BGI Chinese RDRC WuXi AppTec Co Ltd AMED NIBIOHN WA Health

8 EU investment in rare diseases research FP5: 47 Projects 64 million FP6: 59 Projects 230 million FP7: 120 Projects 660 million H2020 so far: 44 Projects 200 million; more to come sculpies, # , Source: Fotolia.com

9 ALPHA MAN: Building on successes from FP5 and FP6 to FP7 and beyond FP7 ALPHA-MAN First in man clinical trials for the therapy; Demonstration of safety and efficacy Marketing autorisation has been applied for FP5 EURAMAN Enzyme replacement therapy in a mouse model for alphamannosidosis FP6 HUE-MAN Pre-clinical and clinical therapy protocols; Conditions for largescale enzyme production

10 Infrastructure for data sharing in rare disease research Flagship IRDiRC project implementing IRDiRC policies and guidelines on data sharing EU 7th Framework Programme, 12M EUR, 6 years Genomic analysis and gene discovery Standardized phenotypic data collection Searchable catalogue of biosamples Data linkage across resources Overcoming Silos Data sharing for research and better data analysis Omics data, clinical data and biosamples from individual with RD Biomarker study Registry Biobank Clinical trial Natural history Disease-causing variant can be identified using the genomics 24 March 2017 analysis platform Sample is findable in the Sample Catalogue Registry data in the ID- Cards directory of registries and biobanks

11 Welcome New goals for 2027! You must be the change you wish to see in the world - Ghandi eighton collins, # , Source: Fotolia.com

12 Welcome New goals for 2027! You must be the change you wish to see in the world - Ghandi eighton collins, # , Source: Fotolia.com