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International cooperationInternational partnershipsIRDiRC

E-RARE and IRDiRC: ANR contributes to the global effort on rare diseases

The French National Research Agency plays an important role in the promotion of research on rare diseases at European and international levels. By funding research projects in conjunction with the support of the "Investments for the Future" Programme, ANR meets the expectations of a large scientific community in the field of rare diseases. 

E-RARE: an ERA-NET to promote research on rare diseases in Europe

ANR participates in the E-RARE programme, an ERA-NET consortium coordinated by France which has funded many international research projects since 2007. The agency has co-financed 53 projects involving French teams for a global amount of €10.8 M.

ANR is co-leader of the work package to organise calls for proposals. The agency also participates in the governance and the selection of the call topics, and finances and monitors the French partners involved in the transnational projects funded.

Considering the major societal challenges for the years to come, the agency is naturally committed to this approach. Indeed, there are between 5,000 and 7,000 diseases classified as "rare", which means that they affect less than five per 10,000 persons. But these diseases affect between 26 and 30 thousand people in Europe, making it a real public-health issue.

The low number of affected patients requires transnational collaboration with multidisciplinary approaches to map prevalence, build patient registries, identify biomarkers, develop new diagnostics and finally perform clinical studies for the development of treatments.

The partners of the E-Rare consortium are: France (INSERM and ANR), Austria (FWF), Belgium (FWO), Germany (BMBF), Spain (ISCIII), Hungary (OTKA), Portugal ( FCT), Poland (NCBiR), the Netherlands (ZonMw), Israel (CSO/MOH), Turkey (TUBITAK), Canada (CIHR-IG), Italy (MoH), Latvia (LAS), Romania (UEFISCDI) and Switzerland (SNF).

These countries participate in the calls for proposals launched by the consortium and fund their national teams.  

ANR is a member of IRDiRC, the international research consortium on rare diseases

The European Commission and the National Institutes of Heath of the USA (NIH) established, in April 2011, the International Rare Diseases Research Consortium to promote international cooperation in the field of research on rare diseases.

It brings together researchers and research funding organisations wishing to invest in this area to reach the final two objectives: to provide 200 new treatments against rare diseases and develop ways to diagnose the rarest of them in 2020.

IRDiRC's partners are Germany, Australia, Canada, China, South Korea, Spain, USA, Finland, France, Georgia, Italy, the Netherlands and UK. Europe is also represented through the participation of the European Commission and the ERA-NET E-Rare. France is represented by the French National Research Agency, the Rare Disease Foundation, the French Association against Myopathies and the Lysogène Society.

E-Rare is one of the key funding instruments of this initiative and is expected to continue this collaboration with the support of ‘Horizon 2020' funding. ANR has been a member of IRDiRC's Executive Committee since the beginning.


IRDiRC governance structure
  • Executive Committee
    IRDiRC is run by an Executive Committee composed of one representative per funding body, each group of funders (for the small funders), representatives of patient umbrella organisations, and the Chair of each of the three Scientific Committees.
  • IRDiRC has three Scientific Committees:
    • Diagnostics committee that advises on research related to the diagnoses of rare disease, including sequencing and characterisation of these diseases
    • Interdisciplinary committee that provides expertise on cross-cutting aspects of rare diseases research including issues related to ontologies, natural history, bio-banking, and registries
    • Therapies committee that 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 2020

Each Scientific Committee is composed of approximately 15 members with a balanced expertise and representation from academia, patient organisations, diagnostics, pharmaceutical industry, and regulatory bodies. They advise the Executive Committee on research priorities and progress made from a scientific point of view.

  • 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.
  • The task of the Scientific Secretariat is to provide organisational support to the implementation of IRDiRC in close collaboration with the different committees and all the stakeholders.