There are an estimated 3.5 million people in the UK living with a rare disease.
There are over 7,000 rare diseases, with around 95% of these health conditions lacking an effective treatment.
75% of rare diseases affect children and more than 30% of children with a rare disease die before their fifth birthday.
Landscape review findings
Published by the National Institute for Health and Care Research (NIHR) and the Medical Research Council (MRC), the landscape review report reveals funding for rare disease research accounted for:
- 7% of the total number of awards funded
- 7% of the total value of funding through NIHR programmes and the MRC joint research portfolio
This investment represents almost £627 million by the two organisations between the years 2016 and 2021, across 698 studies.
Of the investment, motor neuron disease (or amyotrophic lateral sclerosis, the most common type of motor neuron disease) received the single largest amount of funding in the portfolio, around 8%.
This was followed by a high number of awards given to research on Huntington’s disease (5%) and then preeclampsia (5%). Other diseases to receive significant funding included cystic fibrosis (4%), frontotemporal dementia (4%) and idiopathic pulmonary fibrosis (3%).
The investment of nearly £627 million includes £99.7 million invested into MRC fellowship and NIHR career development awards from 2016 to 2021, demonstrating the wide-ranging surrounding support for rare disease research.
Over the same period, more than 500,000 participants were recruited to take part in rare disease research studies that were open or active through research supported by the NIHR Clinical Research Network (CRN).
In addition to the £627 million investment, further financial support was provided to rare disease research through investment in a research delivery workforce and specialist facilities such as NIHR Biomedical Research Centres and NIHR Clinical Research Facilities (CRF).
MRC has provided funding to research institutes, units and centres across the UK in addition to grant-supported research projects in universities, hospitals and other research organisations. These are long-term and multidisciplinary investments.
Improving care, diagnosis and treatment
Professor Lucy Chappell, Chief Executive of NIHR, said:
We know that it is essential to support research and innovation for patients affected by rare diseases and their families, so that we can offer more hope on improving care, diagnosis and treatment. This report is the first time anyone has captured a detailed picture of the rare disease research being funded across the UK. Our findings are another step in understanding the strength and diversity in rare disease research.
As a next step, we will continue to work with the rare diseases community to identify gaps and priorities to help inform future research funding. This will help ensure that those living with rare diseases are participating at all stages in shaping research.
The wider picture
Of the 177 charities that were members of the Association of Medical Research Charities (AMRC) during 2016 and 2021, 107 invested £580 million into over 2,600 rare disease research studies. Charities funding research into specific rare diseases invested in research but 84% of funding was from charities with a broader remit.
The Association of the British Pharmaceutical Industry and the Bioindustry Association identified significant contributions from industry across all phases of research and development.
The report identified 254 rare disease research projects supported by industry. Cystic fibrosis (11%), idiopathic pulmonary fibrosis (7%), uveitis (5%), retinitis pigmentosa (5%) and motor neuron disease (4%) were the five most researched health conditions. In total, just under half (49.3%) of all rare disease studies supported by NIHR’s CRN were funded commercially.
Geographically, research organisations leading rare disease research were identified across all regions of England, as well as Scotland, Northern Ireland and Wales. Devolved administrations also co-funded clinical and non-clinical research in partnership with NIHR.
The report findings will help focus areas for future funding and better target the needs of people with rare diseases. The report shows the UK’s strengths in rare disease research, which build upon its world-class health system and research infrastructure. But this must be placed in the context of considerable unmet need, with many people with rare conditions still looking for effective treatments.
Since 2021, NIHR and MRC have funded a £14 million UK Rare Disease Research Platform and LifeArc has announced a £40 million rare disease translational challenge. These strategic investments will continue to build, shape and strengthen the UK’s rare disease research landscape and will reinforce the UK’s position as a leader in global life science research.
Novel avenues for discovery
Professor Patrick Chinnery, MRC Clinical Director, chair of the Rare Disease Research Landscape Steering Group, and joint chair of the NIHR BioResource for Translational Research in Common and Rare Diseases, said:
It is vital that we have a shared understanding of where we are now, so together we can improve coordination and support for rare disease research that can lead to better patient outcomes.
Colleagues from across research funding sectors, including government, charities and industry, have come together to produce a unique snapshot of current investment, and developed data mapping processes that can be applied across a range of funding types.
We hope the data rich resource underpinning this review will help foster collaboration and lead to novel avenues for discovery.
Working with rare diseases community
Will Quince, Minister of State for Health, said:
Research is crucial in diagnosing, treating and caring for those living with rare diseases. This landmark report – which presents for the first time a clear overall picture of the rare disease research taking place across the UK – is the direct result of the government’s key investment in this area with the support of charities and stakeholders.
We continue to work with the rare diseases community and earlier this year set out our Rare Diseases Action Plan to make sure people can access specialised care, treatment and support – as well as take part in research should they want to.
Please read more about the story on the NIHR website.
Top image: Credit: Maksim Tkachenko, iStock via Getty Images Plus