Research Programmes on Rare Diseases

Rare diseases are life threatening or chronically debilitating conditions from which not more than five affected persons per 10,000 citizens in the European Union (EU) suffer. It is estimated that 6000-8000 different rare diseases exist, affecting between 6% and 8% of the population in the course of their lives. This means that the total number of people affected by rare diseases in the EU is between 26 and 30 million. Most rare diseases are genetic diseases, the others being rare cancers, autoimmune diseases, congenital malformations, toxic and infectious diseases. Research on rare diseases is not only scarce, but also scattered in different laboratories throughout the EU. This scarcity of the expertise translates into delayed diagnosis, few medicinal products and difficult access to care. That is why rare diseases are a prime example of a research area that strongly profits from coordination on a European and international scale. This is also recognized in the Council Recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02). In this Recommendation, rare disease research is specifically emphasized and it is suggested that the coordination of Community, national and regional programmes for rare disease research should be improved. Furthermore, the needs and priorities for basic, clinical, translational and social research in the field of rare diseases and modes of fostering them should be identified, and interdisciplinary cooperative approaches to be complementarily addressed through national and Community programmes should be promoted. In addition, the Council Recommendation asks for the establishment of national plans/strategies on rare diseases that should cover health care and research.

E-Rare-3 (coordinated by ANR, France)

The current E-Rare-3 project will extend and strengthen the transnational cooperation on rare disease research funding organizations in the 5-year period of 2015-2019 by building on the experience and results of the previous ERA-Net programmes E-Rare-1 and E-Rare-2. It aims to provide an international model platform for implementing Joint Transnational Calls. The consortium comprises 26 institutions from 18 European, Associated and non-European countries. Its international dimension will be directly translated into close collaboration with IRDiRC and other relevant European and international initiatives. IRDiRC guidelines and policies will be implemented in the four JTCs and representatives of the IRDiRC Scientific Committees will be invited to join the Advisory Board of E-Rare-3. Members of the EUCERD group will be involved in identifying rare disease research needs. Patients’ organizations from Europe (represented by EURORDIS) and beyond will be invited as a key partner towards collaborative efforts for research promotion and funding. The collaboration with European Research Infrastructures will be consolidated to enhance efficient and participative research. The coordination of national and regional research activities in this E-Rare-3 programme will encourage excellent research groups to collaborate transnationally in the area of rare diseases. In this way the knowledge of the research groups will be combined, doubling of efforts will be avoided and the resources of the funding agencies will be leveraged. The collaborations between the funding agencies and between the researchers will result in an accelerated development of diagnostic tools and therapies for people with a rare disease.

E-Rare-1 and E-Rare-2 (coordinated by INSERM, France)

At present only few European countries fund research on rare diseases through specific dedicated programmes. Therefore, the funding of transnational collaborative research is the most effective joint activity to enhance the cooperation between scientists working on rare diseases in Europe and beyond and thus reducing fragmentation of research in this field. The E-Rare consortium was built to link responsible funding organizations and ministries that combine the scarce resources for rare disease research and thus enable the participation of many researchers to transnational projects via Joint Transnational Calls (JTCs). The calls performed in the E-Rare-1 (2006-2010) and E-Rare-2 (2010-2014) programmes have shown that funding of projects on rare disease research in a coordinated way is clearly possible and needed as there is a significant interest for collaboration between rare disease researchers in Europe. Since 2007 the E-Rare Consortium implemented 6 Joint Transnational Calls for collaborative multidisciplinary research projects open for any rare disease (except rare cancers, rare infectious diseases and adverse reactions to drugs), with wide range of possible topics and approaches. In seven years 56.4 Mio€ were invested to fund 79 research projects involving 347 research teams.

The highly competitive nature of the Joint Transnational Calls resulted in funding of very high quality projects. A large proportion of submitting researchers have outstanding track records with publications in the best-ranking journals. The assessment of the E-Rare funding programme achievements based on the analysis of the final project reports of JTC2007 and JTC2009 confirmed also that E-Rare funded projects largely contribute to reducing fragmentation of resources and achieving critical mass of data and samples for research projects. All funded consortia initiated new infrastructures (databases, registries and biobanks) with which they achieved the critical mass of samples/data necessary for the development of the project. E­Rare funding facilitated the academic training of a substantial number of young researchers: 58 MSc and 76 PhD students were trained in the context of the 29 analyzed funded projects. Finally, E­Rare was recognized as a catalyst for new collaborations but also for cooperation sustainability. 77 % of consortia established new collaborations thanks to the E-Rare funding and more than half of them succeeded in obtaining subsequent funding for their project. The importance of E-Rare as a collaboration “stimulator” was also confirmed by an inquiry in Spring 2013 among researchers that applied to E-Rare calls JTC2007 up to JTC2012 but did not succeed to obtain funds. The response rate to this survey was more than 20%. Despite the fact that these applicants were not funded by E-Rare, 50% of the responders confirmed that applying to the E-Rare calls triggered the establishment of new collaborations and most of them pursued this collaboration even without E-Rare funding.

Next to performing Joint Transnational Calls and assessment of the funding mechanisms and results of the funded research projects the E-Rare-1 and E-Rare-2 programmes paid attention to deepening the cooperation and coordination among the E-Rare partners by systematic exchange of information on the national programmes and by strategic activities aimed at a sustainable development and extension of the network of rare disease research funders. The E-Rare-2 consortium started with 16 partners from 13 countries in the consortium. Within the period of the E-Rare-2 programme new funding bodies from Belgium, Canada, Hungary, Latvia, Poland and Romania joined (some of) the E-Rare calls and funding bodies of Romania and Latvia joined the E-Rare 2 consortium as full partner and observer, respectively.
In September 2012 the « E-Rare Group of Funders » joined the International Rare Diseases Research Consortium (IRDiRC) with the aim of contributing to its grand challenges and objectives and to continue and expand E-Rare activities in accelerating the development of new diagnostics and therapeutics for patients suffering from rare diseases. The goal of IRDiRC is to team up researchers and funding organizations across the world that are strongly involved in rare diseases research in order to achieve two main and ambitious objectives: deliver 200 new therapies for rare diseases and means to diagnose most rare diseases by the year 2020. This Consortium was launched by the European Commission and the US National Institute of Health in September 2010 and was immediately joined by Spain, followed by France, The Netherlands, Germany and Italy. As a member of IRDiRC E-Rare strongly promotes transnational funding activities and facilitates participation of a wide range of funding organizations, thus giving them the opportunity to participate in the shaping of the rare diseases research landscape and policies.