By Dr Catriona Manville, Director of Research Policy, AMRC

Published: 22 September 2023

Today a report mapping rare disease research funding across the UK has been published. It is the first of its kind, bringing together the different valuable contributions of different major funders, from government, charity and industry, to paint a picture of the support for rare disease research. We hope this research will deliver benefit and hope for patients with rare conditions in the UK and beyond.  

Why is it important?

A rare disease or condition is defined as one that affects fewer than 1 in 2,000 people within the general population. Currently, there are over 7,000 known rare diseases and there are others out there.

This is the first study of this scale, mapping a national landscape of rare disease research from grant titles and abstracts, and is carried out in response to the UK rare disease framework. This method allows the analysis to go beyond themes or remits of particular grant calls or schemes and review research funding that focuses on rare disease at a project level. It will create an understanding of the huge amount of investment in the UK going into rare disease, and its distribution across areas.

What was done?

The study identified all grants funded between 2016 and 2020 on the topic of a rare disease, as defined by terms catalogued in Ophanet. Grants including key terms and phrases were then identified using a computer programme followed up by a manual review to add missing terms and other abbreviations.

What does it show?

AMRC members funded £584 million of research on rare diseases in this timeframe. If you include rare infections and neoplasms (excluded from this analysis) this rises to £1.8 billion. Interestingly, it’s not just rare disease charities who fund research into rare disease. 110 AMRC members funded research into rare disease within the timeframe (approximately 62%).

Investment is split between small, niche funders in rare disease and those with larger portfolios, who have rare disease research as an element of this. 84% of investment from AMRC members in this dataset came from other charities with a focus beyond rare diseases. This focus from charities with a wider remit than rare disease may be a deliberate strategy of the charity to represent this type of research, or it may be that the underpinning mechanisms apply to more prevalent diseases/conditions.

Across the AMRC membership portfolio, the majority of charities with a focus on rare disease spend under £1 million on research per annum (78%). However, all the member charities with research spend over £15 million and 80% of member charities spending between £1 and £15 million funded one or more studies focusing on rare disease during the timeframe of this study.

AMRC members fund just under 50% of the public contribution, similar to MRC and NIHR funding combined. This broadly mirrors wider trends for research funding in the UK. However, the portfolio differs on size of grant, as AMRC members fund three times as many grants as government funders.

What are the next steps?             

This is just the first step and leaves us with so much to build on. There are many limitations to be aware of – due to the scope and timing of the work. For example: the exclusion of rare infection and neoplasm.

It would be interesting to repeat the analysis with a more recent picture, as the timeframe used is pre COVID, which won’t reflect funding pressures and cuts that some charities had to make as a result of the impact of pandemic on fundraising.

There is a lot to learn about the method and the limitations of the data we rely on. For example, this demonstrated the need to be specific in the grant title on the topic and the mechanism.

It is a top-level picture. There are over 7,000 rare diseases – from those with relatively high prevalence to ultra rare conditions. Therefore, even in areas of support, it is likely to be skewed by investment in a handful of conditions and therefore a more nuanced picture is needed to determine research needs and assess where additional funding is needed.

It’s great to be able to shout about what charities are funding in this area – and we are really proud of our members’ contribution. At the same time, it’s important to remember, charities bring so much more. By identifying and filling gaps in the research pathway they are involved in critical steps to delivering patient benefit from research – from investing in or supporting registries of patient data, to accelerating clinical trials and supporting recruitment to studies.