Research Programmes on Rare Diseases (E-RARE)

Research Programmes on Rare Diseases

Rare diseases, also known as orphan diseases, are conditions that affect a small percentage of the population at any given time. Despite their individual rarity, collectively, there are thousands of these diseases, and they impact millions of individuals worldwide.

• Rare Diseases reports in the EU
• European Joint Programme on Rare Diseases (EJP RD)
• E-Rare-3 (coordinated by ANR, France)
• E-Rare-1 and E-Rare-2 (coordinated by INSERM, France)
• Publications and Reportings
• FAQ Research Programmes on Rare Diseases

They are typically complex, debilitating, and life-threatening. The term “rare” can sometimes be misleading, as together, rare diseases affect as many as one in seventeen people. What makes these diseases particularly challenging is that they are often difficult to diagnose, largely due to a lack of scientific knowledge and quality information on the disease itself. Moreover, as each disease only affects a small number of people, expertise and treatment options can be limited or non-existent. This, in turn, can lead to delays in diagnosis, with patients sometimes waiting years to get a correct diagnosis. Many rare diseases have genetic origins, which further complicates matters as the genetic mutations can be difficult to identify and understand. While significant advancements have been made in our understanding and treatment of some rare diseases, many remain without effective treatments. Consequently, research into rare diseases is not just important, but vital to enhancing the quality of life for the millions affected by these conditions.

Rare Diseases reports in the EU

Founded with an aim to coordinate and fund rare diseases research at a transnational level, E-Rare has become a beacon of hope for those dealing with rare diseases worldwide. But what is E-Rare? 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. In the 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.

European Joint Programme on Rare Diseases (EJP RD)

The European Joint Programme on Rare Diseases (EJP RD) has continued the work initiated by the E-Rare programs. EJP RD is a multinational initiative that aims to improve the coordination and efficacy of research on rare diseases, with the ultimate goal of benefiting patients. The program is supported by over 130 institutions from 35 countries, including all 24 European Reference Networks (ERNs). The EJP RD is particularly focused on encouraging the sharing of research and clinical data, as well as knowledge and processes related to rare diseases, on both a European and global scale. Their objectives include improving research integration, efficacy, and social impact through the promotion of data sharing, as well as developing an effective model of financial support for all types of research on rare diseases​. To further these goals, EJP RD has implemented several Joint Transnational Calls (JTCs) since 2019, in order to promote and coordinate research efforts in the field of rare diseases. These calls are funded by a number of national and regional funding organizations, and aim to enable researchers from different countries to collaborate on a common research project. For 2023, the call’s focus is on natural history studies that address unmet needs in rare diseases, with the goal of facilitating understanding of disease progression throughout a patient’s lifespan. The call invites research proposals in several areas, such as estimating disease prevalence, identifying biomarkers for diagnosis/prognosis of a rare disease, and identifying relevant endpoints for future studies. The call also encourages the use of innovative data collection methods and the integration of bioinformatics and statistical skills in the research proposals.

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

The E-Rare-3 project, which ran from 2015 to 2019, served as a significant milestone in the transnational cooperation among rare disease research funding organizations. Building upon the achievements and experiences from the preceding ERA-Net programmes, E-Rare-1 and E-Rare-2, it set a global standard for implementing Joint Transnational Calls. This consortium involved 26 institutions across 18 European, Associated, and non-European nations. Its international reach was reflected in its tight-knit collaboration with IRDiRC and other related European and international initiatives. The IRDiRC guidelines and policies were implemented across the four JTCs, with representatives from the IRDiRC Scientific Committees invited to join the Advisory Board of E-Rare-3. EUCERD group members contributed to identifying the research needs for rare diseases. Patient organizations from Europe (represented by EURORDIS) and beyond were integral partners, promoting collaborative efforts for research promotion and funding. The project also reinforced its association with European Research Infrastructures to boost efficient and inclusive research. The E-Rare-3 programme coordinated national and regional research activities, encouraging top-tier research groups to work together transnationally in the field of rare diseases. This collaboration led to combining the knowledge of the research groups, avoiding duplication of efforts, and maximizing the resources of the funding agencies. As a result of the cooperative efforts between the funding agencies and researchers, there was an accelerated development of diagnostic tools and therapies for people living 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.

Publications and Reportings

1. Survey and Strategic Analysis on Future Themes and Needs for Rare Diseases Research Funding
2. Strategy Paper on Platforms for Rare Diseases Research. Next Generation Sequencing Platforms
3. Research Programmes on Rare Diseases in the E-Rare Partner Countries
4. E-Rare Report on rare diseases research funding in Europe and beyond

FAQ Research Programmes on Rare Diseases

1. What are Research Programmes on Rare Diseases? Research programmes on rare diseases are initiatives, often funded by governmental, non-profit, and private organizations, aimed at promoting and supporting scientific research into rare diseases. These programmes often focus on understanding the causes and progression of rare diseases, developing diagnostic tools and therapies, and improving patient care and support.
2. Why are Research Programmes on Rare Diseases important? Given the limited understanding and lack of effective treatments for many rare diseases, these research programmes are vital. They help bridge the knowledge gap, drive innovation in treatment and management strategies, and ultimately improve the quality of life for patients suffering from rare diseases.
3. What is an example of a Research Programme on Rare Diseases? A prominent example is the European Joint Programme on Rare Diseases (EJP RD). This programme brings together institutions from over 35 countries to create a comprehensive ecosystem for rare disease research, care, and medical innovation.
4. Who funds Research Programmes on Rare Diseases? Funding for these programmes often comes from a variety of sources including government agencies, non-profit organizations, charities, universities, and sometimes private companies interested in rare disease research.
5. How can researchers apply for funding from these Research Programmes on Rare Diseases? Application processes vary by programme, but often involve submitting a research proposal during an open call for proposals. Details about the application process, deadlines, and eligibility criteria can typically be found on the programme’s official website.
6. What types of research are supported by these programmes? These programmes support a broad range of research, from fundamental biological studies, clinical research, epidemiological studies, to social and economic research related to rare diseases.
7. How do Research Programmes on Rare Diseases contribute to medical advancements? By supporting research into the causes, diagnosis, and treatment of rare diseases, these programmes contribute to the development of new diagnostic tools, therapies, and care strategies. They also foster collaborations between researchers, facilitating the sharing of data and resources, and speeding up the pace of scientific discovery.