UK rare disease research landscape mapped for first time

A detailed view of rare disease research in the UK has been captured for the first time in a new report published today. It reveals over £1.1 billion has been invested by Government and charities over a five-year-period.

The report has been published by The National Institute for Health and Care Research (NIHR), in collaboration with the Medical Research Council (MRC), industry, charities and the devolved administrations. It covers a five-year period from 2016 to 2021 and presents a clear overall picture of the rare disease research taking place across the UK, where it was happening and who it was funded by.

There are over 7000 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. There are an estimated 3.5 million people in the UK living with a rare disease.

The report reveals funding for rare disease research accounted for 7% of the total number of awards funded, and 7% of the total value of funding through NIHR Programmes and the MRC joint research portfolio. This represents an investment of almost £627 million invested by the two organisations between the years 2016-2021, across 698 awards.

Of this, 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%). Other diseases to receive significant funding included cystic fibrosis (4%), frontotemporal dementia (4%) and idiopathic pulmonary fibrosis (3%).

Surrounding support

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 £627m 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 (BRCs) and NIHR Clinical Research Facilities (CRFs).

The 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.

Professor Lucy Chappell, Chief Executive of the 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 (ABPI) and the BioIndustry Association (BIA) 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 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 the NIHR.

Professor Patrick Chinnery is 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.

He 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.”

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.”

Impact

Researchers at NIHR Manchester CRF helped develop treatments for cystic fibrosis (CF), a rare genetic condition which affects around 10,000 people in the UK. They have been at the forefront of trials of the most recent and most powerful triple combination therapies and they were central to the development of the triple combination therapy, Kaftrio. Kaftrio was a breakthrough therapy that was shown to be effective in 90 percent of CF patients with an average improvement in lung function of over 20%.

Researchers at NIHR Sheffield BRC discovered an experimental drug targeting a rare form of motor neurone disease showed significant physical benefits after 12 months. A landmark clinical trial proved that the new drug tofersen can slow and reduce progression of the disease in patients with MND caused by the faulty SOD1 gene. The trial was conducted from March 2019 to July 2021 and 108 patients took part.

Future commitment

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, The NIHR and MRC have funded a £14 million UK Rare Disease Research Platform. LifeArc has announced £100m of support for rare disease research as part of their Rare Disease Translational Challenge. This includes £40m for a network of Translational Rare Disease Centres. 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.

Janet Valentine, the ABPI’s Director of Innovation and Research Policy said: “This report is the first of its kind that maps out the UK rare diseases research landscape across Government, charity and industry. It provides a helpful overview of the research activities underway in conditions that affect one in 17 people in the UK.

“Research is a global endeavour and industry has more than 700 medicines in development internationally for rare diseases. We want to make sure that UK patients can benefit from these advances. This report demonstrates the vibrant ecosystem for rare disease research that we have in the UK and underlines the importance of attracting industry to carry out clinical trials here.”

Dr Catriona Crombie, Head of Rare Disease Translational Challenge at LifeArc, said: "We’re pleased to have contributed to this report as understanding where the UKs strengths and gaps are is an important step that will inform decisions on where to focus resources, support the research community to work more effectively together to deliver faster and better care for people living with a rare disease.

“There is no such thing as a disease too rare for investment, and at LifeArc, we’re committed to not only supporting individual conditions, but also to supporting vital infrastructure and new models of investment and development, that could have an impact across all rare diseases, bringing new tests and treatments to patients more quickly."