Published: 29 February 2024

AMRC members account for half of public investment in UK rare disease research, funding across the pipeline from fundamental science to clinical trials. But charities bring much more than money to the rare disease landscape.

In this report we share examples of how charities, driven by patient priorities, are building capacity in the workforce, developing research resources, improving diagnosis, transforming clinical trials, accelerating access to treatments and catalysing partnerships across the sector.

You can also download a PDF version of this report.

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Sources:

Rare disease landscape overview

• Rare disease definition, 3.5 million: https://www.raredisease.org.uk/what-is-a-rare-disease/
• Over 7000 rare diseases, 95% of which lack effective treatment: https://www.ukri.org/news/review-reveals-1-1-billion-of-uk-rare-disease-research-funding/
• AMRC members contribute half of public investment in UK rare disease research, funding across the research pipeline from fundamental science to clinical trials. AMRC contribution to the DHSC Rare Disease Research Landscape Project Report, published September 2023.

How do medical research charities make a difference for rare diseases?

To assess the contribution of AMRC charities to the rare disease funding landscape, we examined all awards funded by AMRC members over the last ten years (between January 2013 and December 2022). 

To identify rare disease awards within this portfolio, we used the search protocol described in the DHSC Rare Disease Research Landscape Report. This search protocol identified rare disease awards by searching for rare disease terms (derived from the rare disease database Orphanet) within the award titles/abstract. We added further search terms (i.e. common abbreviations of rare disease names) to the search protocol to better capture rare disease awards in our portfolio.

• Over the last decade, 143 (82%) AMRC members funded at least one rare disease award, to a total value of over £2.1 billion. This includes current and former AMRC members.
• From the full portfolio of research awards funded by AMRC charities in the last ten years, 16% of AMRC charity research awards were in rare disease (5,805 rare disease awards out of 35,445 total awards in the AMRC portfolio).
• 29 of AMRC member charities self-defined as focused solely on rare disease.
• 12 rare disease patient data registries were funded by AMRC charities.
• Geographical distribution of rare disease awards across the UK using the postcode of host institution to which the award was awarded. £20 million of funding was classified as 'unknown', £63 million was funded overseas.
• Main research areas of charities that fund rare disease research, identified by the charity.

For more, see our blog.