IRDiRC: International Rare Diseases Research Consortium
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1 IRDiRC: International Rare Diseases Research Consortium EuRenomics, NEUROMICS and RD-Connect Joint Kick-off Meeting Sitges, Spain, 25 January 2013 Dr. Iiro Eerola Scientific Project Officer Unit for Personalised Medicine Directorate for Health Directorate-General for European Commission
2 The EU: A major player in funding health research in rare diseases Over two decades of investment in the area Over 430 million invested in current programme More than 80 collaborative research projects launched in FP7 Continued strong investment through the next funding programme foreseen Gino Santa Maria/Fotolia.com
3 Research challenges related to rare diseases are too big to master alone Huge unmet medical needs for patients across the globe Scarce research resources Small patient populations Scattered knowledge Limited harmonisation of information and data yurii bezrukov /Fotolia.com
4 Co-operation at international level to stimulate, better coordinate & maximise output of rare disease research efforts around the world
5 nyul/fotolia.com Yuri Arcurs/Fotolia.com IRDiRC vision and 2020 goals in rare diseases research 200 New Therapies Means to Diagnose Most Rare Diseases
6 IRDiRC basic principles Teams up public and private organisations investing in rare diseases research Research funders with relevant programmes >$10 million US over a 5-year period can join Small funders may form a group of funders Each organisation funds research its own way Funded projects adhere to a common framework
7 rtguest/fotolia.com 29 committed members Europe E-RARE Consortium (EU) European Commission (EU) EURORDIS (EU) French Association against Myopathies (FR) French National Research Agency (FR) German Federal Ministry of Education and research (DE) Italian Higher Institute of Health Research (IT) Italian Telethon Foundation (IT) Lysogene (FR) Netherlands Organisation for Health Development Prosensa (NL) Shire (IE) Spanish Carlos III Health Institute (ES) UK National Institute for Health Research (UK) Australia Western Australian Department of Health North America Canadian Institutes for Health Research (CA) FDA Orphan Products Grants Program (US) Genome Canada (CA) Genetic Alliance (US) Mendelian Disorders Genome Centres (US) National Centre for Translational Therapeutics (US) National Cancer Institute (US) National Institute of Neurological Disorders and Stroke (US) National Institute of Arthritis and Musculoskeletal and Skin Diseases (US) National Institute of Child Health and Human Development (US) National Eye Institute (US) NORD (US) Office of Rare Diseases (US) Sanford Research (US)
8 Executive Committee Chair Ruxandra Draghia-Akli IRDiRC Governance Structure Diagnostics Chair Kym Boycott Scientific Committees Interdisciplinary Chair Hanns Lochmueller Therapies Chair Josep Torrent-Farnell Working Groups Names and biographies of appointed members on IRDiRC website: click on to rare diseases research
9 Working Groups IRDiRC Working Groups Ontologies, disease prioritisation Sequencing Ethics and governance Registries and natural history Biomarkers Repurposing, small molecules Model systems Genome / Phenome Biobanks Bioinformatics, data sharing Advanced therapies Regulatory aspects / Bottlenecks FP7-funded SUPPORT-IRDiRC provides organisational support for Scientific Committees and Working Groups Coordinator: Prof. Ségolène Aymé, INSERM
10 EURenOmics: Rare kidney disorders New EU-funded IRDiRC projects NEUROMICS: Rare neuromuscular and neurodegenerative disorders Molecular characterisation of a large group of rare diseases using omics technologies Ontologies, reference omics profiles, diseases models, development of technologies Will lead to new means to diagnose and allow development of new treatments for these diseases
11 RD-Connect Platform for integrating omics data with clinical data Connecting registries, biobanks and clinical bioinformatics Supporting collection and storage of data and samples in EURenOmics and NEUROMICS Provides access to omics profiles and samples Will collaborate with other IRDiRC projects New EU-funded IRDiRC projects
12 Organisational support for IRDiRC SUPPORT-IRDiRC -Omics for better understanding of diseases in view of development of new diagnostics and treatments EURenOmics and NEUROMICS Databases, biobanks and clinical bio-informatics hub RD-Connect Preclinical and clinical development of orphan drugs DevelopAKure, DSD-Life, EUROFANCOLEN, MeuSIX, Net4CGD, ODAK, PROFNAIT, PREVENTROP, STRONG, Traumakine, Observational trials in rare diseases BESTCILIA, child-eu, DeSScipher, FIGHT-HLH, OPTIMISTIC Best practice and knowledge sharing in clinical management RARE-Bestpractices 20 projects on rare diseases launched in 2012
13 Topics related to rare diseases in the last FP7 Health Call (2013) HEALTH : Development of imaging technologies for therapeutic interventions in rare diseases Min. 30 % EU Contribution to SME(s) HEALTH : New methodologies for clinical trials for small population groups statistical design methodologies for clinical trials in particular for rare diseases or personalised medicine
14 Conference of the International Rare Diseases Research Consortium 2013 Dublin, April
15 Further information Information on research programmes and projects EU research EU Health Research tml Seventh Framework Programme FP7 Rare diseases Information requests
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