IRDiRC & E-Rare update
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- Derick Beasley
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1 IRDiRC & E-Rare update February /02/ Fondation maladies rares IRDiRC: objectives and scope The International Rare Disease Research Consortium (IRDiRC) teams up researchers and organizations investing in rare diseases research in order to achieve two main objectives by the year 2020: deliver 200 new therapies for rare diseases means to diagnose most rare diseases. A number of grand challenges are being addressed through collaborative actions to reach these 2020 goals such as: establishing and providing access to harmonized data and samples, performing the molecular and clinical characterization of rare diseases, boosting translational, preclinical and clinical research, streamlining ethical and regulatory procedures. Nicolas LEVY 1
2 IRDiRC: Executive Committee: update Executive Committee: 38 Members (i.e. funding bodies/organisations investing a minimum of $10 million US over 5 years in research projects/programmes contributing towards IRDiRC objectives and invited patient advocacy group (3). North America (18): USA (16), Canada (2) Europe (16): Finland (1), France (4), Germany (1), Georgia (1), Italy (2), UK (1), Spain (1), Netherlands (2), pan-european (3: EC, E-Rare, EURORDIS) Australia (1) Asia (3): China (2), Korea (1) New: The French Foundation for rare diseases has been accepted as a new funder member on 3 February 2014 (previously involved in the Scientific Secretariat coordinated by ORPHANET). IRDiRC: Scientific Committees Composition: Interdisciplinary Scientific Committee (ISC) 11 members Chaired by Hanns Lochmuller, University Newcastle upon Tyne, UK Two French representatives: Samantha Parker, Orphan Europe & Jamel Chelly (Vice Chair of the ISC), Inserm Diagnostics Scientific Committee (DSC) 11 members Chaired by Kym Boycott, Children's Hospital Eastern Ontario, Canada No French representative Therapy Scientific Committee (TSC) 18 members Chaired by Yann Le Cam, Chair, CEO, EURORDIS, France 3 French representatives: Maria Mavris & Yann Le Cam, EURODIS; Fulvio Mavilio, Genethon; submitted to the TSC Role: Advise on research related to the diagnoses of rare disease, including sequencing and characterization of these diseases; Provides expertise on cross-cutting aspects of rare diseases research including issues related to ontologies, natural history, biobanking, and registries; Gives guidance for the pre-clinical and clinical research aiming to deliver on the goal of developing 200 new therapies for rare diseases by the year Each Scientific Committee is composed of approximately 15 members with a balanced expertise and representation from academia, patient organizations, diagnostics, pharmaceutical industry, and regulatory bodies. They advise the Executive Committee on research priorities and progress made from a scientific point of view. Nicolas LEVY 2
3 IRDiRC: Working Groups Role The working groups are composed of representatives from funded projects that contribute to IRDiRC objectives within the scientific domain of the working group. They cooperate to ensure synergies between all research projects, by exchanging results, expertise, experiences and information. Organisation 12 working groups, 4 depending from each Scientific Committee (French participation) Depending from the Diagnostics SC Genome/Phenome (9 members) Model Systems (8 members) Ontologies and Disease Prioritization (9 members) (Ana Rath, Orphanet) Sequencing (11 members) (Christophe Béroud, Aix-Marseille University) Depending from the Interdisciplinary SC Biobanks (9 members) (Emmanuelle Rial-Sebbag, INSERM) Data sharing and bioinformatics (14 members) (David Salgado, Aix-Marseille University) Ethics and governance (11 members) (Marie-Christine Ouillade, AFM) Registries an natural history (18 members) (Odile Boespflug-Tanguy, Hospital Robert Debré) Depending from the Therapies SC Biomarkers for disease progression and therapy response (7 members)(gillian Butler-Browne, INSERM) Biotechnology-derived products including cell- & gene-based therapies (10 members) (Geraldine Honnet, Genethon) Chemically-derived products including repurposing (7 members) (Frederic Marin, GMP-Orphan) Orphan drug-development and regulatory processes (11 members) (Didier Caizergues, Genethon & Yann Le Cam, EURORDIS, Maria Mavris, EURORDIS) First outputs for IRDiRC roadmap: Diagnostics Nicolas LEVY 3
4 Upcoming events and conferences February 13, th IRDiRC Interdisciplinary Scientific Committee Meeting Teleconference March 19, rd IRDiRC Therapies Scientific Committee Meeting Paris, France May 7-8, th IRDiRC Executive Committee Meeting Berlin, Germany November 7-9, nd IRDiRC Conference Shenzhen, China E-Rare Activities Coordination & support (EC) Transnational calls (NA) Systematic information sharing & best practices: Questionnaires: Research programs in RD RD Funding Workshops: Ethics & RD Evaluation of funded programs Definition of strategic priorities: Definition : Future needs Calls for projects (general/thematics) Participation: IRDiRC Exec Committee member Communication & dissemination - Newslette r Publications EU Initiatives Funding Nicolas LEVY 4
5 Country/Region JTC 2013: 14 participating countries 17 funding agencies Participating organisation Earmarked funding (M for 3 years) Fundable research groups Austria Austrian Science Fund (FWF) 1 4 Belgium Research Foundation Flanders (FWO) Belgium Fund for ScientificResearch (FNRS) Canada Canadian Institutes of Health Research Institute of Genetics(CIHR-IG) Canada Fonds de recherche du Québec-Santé (FRQS) France French National Research Agency (ANR) Germany German Federal Ministry of Education and Research (BMBF) Hungary Hungarian Scientific Research Fund (OTKA) 0.15 Hungary University Pécs (UNIPECS) Israel Chief Scientist Office of the Ministry of Health (CSO/MOH) [1] Italy Ministry of Health (MoH) Poland National Centre for Research and Development (NCBiR), Portugal Foundation for Science and Technology (FCT) Romania Executive Agency for Higher Education, Research, Development & Innovation Funding (UEFISCDI) Spain National Institute of Health Carlos III (ISCIII) Switzerland Swiss National Science Foundation (SNSF) Turkey Scientific and Technological Research Council of Turkey (TÜBITAK) ,26 M E-Rare - JTC 2013 results Step No. of Budget Submitted projects: Mio. After formal check: Mio. After 1st evaluation: Mio. After 2nd evaluation: funded projects 12 8,2 Mio. Nicolas LEVY 5
6 N of by medical area (in % submitted vs selected) Neurology Musculoskeletal Diseases Metabolic diseases Endocrinology Pulmonary/Respiratory Diseases Cardiology/Vascular Diseases Hematology/Immunology Dermatology Ophthalmology Rheumatology Gastroenterology Others - Other Disease Area Dysmorphology Otolaryngology Psychiatry/Psychology Nephrology/Urology Before selection After 1st evaluation Final decision JTC 2012 French projects OPTOREMODE: Serge Picaud, UPMC Ophtalmology: Retinitis pigmentosa: retinal remodelling, optogenetic reactivation partners in the project: FR, CA, DE, ES EUROMICRO: Alan Verloes, Hopital Robert Debre Neurology: Primary microcephalies: natural history, clinical resource reference center partners in the project: FR, BE, DE, CH, UK ACAMIN: Jerome Deveaux, University Aix-Marseille Neurology: Multifocal motor neuropathies: immune mechanisms partners in the project: FR, ES, IL GOSAMPAC: Jerome Bertherat, INSERM Endocrinology: ACTH-independent Cushing s Syndrome: very rare (0.6/M/year), genetic analysis and correlations partners in the project: FR, DE, IT Nicolas LEVY 6
7 E-Rare research funding in France ( ) N of French research teams in transnational projects (including coordinators) Eligible Pre-selected Funded N of French project coordinators Eligible Pre-selected Funded JTC 2011 JTC 2012 JTC 2013 Note: JTC 2012 wasdedicatedto youngresearchersand the overalnumberof projectswaslowerthanin 2011 and 2013 E-Rare research funding in France ( ) Mio Budget requested JTC 2011 JTC 2012 JTC Budget obtained 0 Eligible Funded EveryyearANR fundsfrench researchteams for the total amountof around2 Mio The oversubscription rate is around 11 Nicolas LEVY 7
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