New report on funding support for rare diseases

Posted on February 1, 2013 by


Rare Disease UK (RDUK) today launched its report on funding support for rare diseases; this important piece of research aims to capture how the rare disease community perceives the funding support that public and major charitable funding bodies give to research into rare diseases, it also seeks to investigate whether these perceptions are accurate.

At RDUK, we hope to use the findings to highlight the barriers to research and identify areas of current good practice.


For people affected by the 6000 known rare diseases (a number which continues to grow), sustainable high quality biomedical research and development offers hope, especially in the absence of effective therapies and treatments. Research can lead the way for a greater understanding in rare diseases and be the driver behind the development of new diagnostic tests, therapies and treatments.

Our 2010 report ‘Experiences of Rare Diseases: An insight from Patients and Families’ found patients felt that there were few opportunities to participate in research and there was little awareness of studies into their condition.

Furthermore, RDUK members and rare disease stakeholders often report that public and major charitable funding bodies do not provide sufficient support for research into rare diseases; as a result, RDUK felt that this was an area that needed to be investigated. We set about establishing the extent to which patients, families and the academic and clinical communities are aware of the funding opportunities that currently exist for research into rare diseases, and the ease (or otherwise) with which these can be accessed. We focused on four of the major funding bodies: Cancer Research UK, the Medical Research Council (MRC), the National Institute for Health (NIHR) and the Wellcome Trust, and used both qualitative and quantitative methods to gather information (including a survey to all RDUK members) you can find out more about the methodology in the full report.

Research Results

We found a perception amongst the rare disease community that public and major charitable funding bodies do not support research into rare diseases very well, in particular that there is not enough funding awarded. Comments made by respondents from the survey revealed that they felt rare disease research was neglected by the major funding bodies in favour of more common diseases and that research into rare diseases was left to small charities, where they existed.

An overwhelming majority of the survey respondents (84%) said that they did not feel there was a level playing field between rare diseases and more common diseases when it comes to applications for funding. Many stakeholders felt that funding is prioritised for research into diseases that have a greater economic impact.

Stakeholders were asked in the survey what they thought could be done to improve public and major charitable funding bodies support for research into rare diseases. The most popular options amongst stakeholders were to create specific funding streams for rare diseases, including someone with expertise in rare diseases on funding committees.

However, when questioned about the individual funders, the majority of respondents said that they didn’t know to what extent each of these currently supported research into rare diseases. This indicates a significant lack of awareness of how funding bodies support research into rare diseases.

On further investigation it was revealed that Cancer Research UK, the NIHR and the Wellcome Trust all currently have grants, funding streams or themed calls for rare disease areas. All four funders had various schemes available for research into rare diseases. The low levels of awareness of these initiatives suggest they are not promoted enough to rare disease stakeholders.


The findings reveal a gap in perception between funders and applicants. 81% of the survey respondents said that public and major funding bodies don’t do enough to make people aware of the opportunities for funding rare disease research. There is a need to increase awareness, and to encourage a greater dialogue between funders and other stakeholders so that high quality projects can receive support.

We believe that better promoted themed calls or highlighting notices for rare diseases will help public and major charitable funding bodies communicate the opportunities that are available which in turn will encourage more researchers to take an interest in the area.

There is also an opportunity to better promote and support current funding in rare diseases, to raise the profile of the research that is already taking place. Where they do exist, it is sometimes hard to find information about these themed calls. Opportunities for research into rare diseases should be widely disseminated and promoted, to researchers and through patient organisations.


This report outlines recommendations for improving the perceptions of public and major charitable funding bodies amongst the rare disease community. They are aimed at all four of the funding bodies that this report focuses on but are also good indicators for all funding bodies working within this field of research. Many of these recommendations are easily implemented, but could vastly improve the support that funding bodies give to research into rare diseases.

  •  Recommendation 1: Awareness needs to be raised of funding opportunities for rare disease research through better promotion of existing programmes.
  •  Recommendation 2: Monitoring what is spent on rare disease to enable funding bodies to identify the proportion of their resources allocated to rare disease research.

If funding bodies can readily identify their spending on research related to rare diseases they can monitor progress in this area and reflect upon the success of themed calls, highlight notices and dedicated funding streams. It would also allow funding bodies to be more transparent about what they fund.

  •  Recommendation 3: Methods to foster collaboration in the field of rare disease research should continue to be explored and exploited.

A number of stakeholders identified a need for public and charitable funding bodies to collaborate with other organisations for research into rare diseases, to help to pool knowledge and resources.

  •  Recommendation 4: Initiatives such as Research Design Service should be better promoted to support researchers in the field of rare diseases.

Research Design Service is an example of an excellent resource that provides the kind of support rare disease researchers require. However many of the researchers involved in our interviews had not heard of the Research Design Service, or similar initiatives.

  •  Recommendation 5: Peer review of funding applications should include someone with experience in rare disease research.

One funding body informed RDUK that currently nearly half of all peer review requests are turned down, and that the number of refusals is growing. Some interviewees, both funding bodies and researchers, reported that this is a particular problem for rare disease research due to the small field of expertise for individual rare conditions.

Way forward

By highlighting the issues surrounding funding support for rare disease research we hope to break down the barriers that stand in the way of research into this area. Furthermore, by identifying current good practice and making recommendations, we hope to create a sustainable environment for research into rare diseases so that patients can benefit from the new knowledge that research can bring.

For more information, including our additional findings, you can read the full report here.

Farhana Ali is the Executive Officer for RDUK, the national multi-stakeholder alliance for people with rare diseases and all who support them.

Posted in: Policy