Published: 01 March 2024
The government’s Rare Disease Action Plan 2024 has been published, highlighting the work that has so far been done by the NIHR, DHSC and others over the last year to better address the needs of people with rare diseases.
A rare disease is one that affects fewer than 1 in 2000 people - most of these conditions are genetic. But although each disease is rare, collectively they are common, with 3.5 million people affected in the UK. It is estimated that there are over 7,000 rare diseases, with new conditions continually being identified as research advances. While around 80% of rare diseases have an identified genetic origin, they can also be caused by other factors such as disordered immunity or infections.
The new plan reviews progress to date, and builds on the first two action plans, launched in 2022 and 2023, setting out plans for the coming year.
UK rare disease research platform
In July 2023 the outcomes of the MRC/NIHR funding call for the UK Rare Disease Research Platform were announced, with a £14 million investment over five years. The platform is made up of a co-ordinating hub and 11 UK-wide research nodes based at universities across the UK. The platform will facilitate greater collaboration between academic, clinical and industry research, and people living with rare diseases, research charities and other stakeholders, to accelerate the understanding, diagnosis and therapy of rare diseases.
Rare diseases research landscape report
In September 2023 the NIHR published the UK Rare Diseases Research Landscape Report in collaboration with the Medical Research Council, industry, charities and the devolved administrations. Covering the period 2016 to 2021, it presents an overall picture of the rare disease research taking place across the UK, where it was happening and who funded it . A unique algorithm was developed to identify research on specific rare diseases. Both the search protocol and the data underpinning the report have been published on NIHR Open Data. Publication of the report completes the first stage of action 15. During the coming year we will work with the rare diseases community to identify research gaps and priorities.
Improving the Be Part of Research platform
In partnership with DHSC we carried out a user survey of how people with rare conditions use the NIHR Be Part of Research site, so we can make it easier for people to get involved in clinical trials.
We will implement the recommendations from the survey, with all milestones to be implemented by Autumn 2024. We will:
- improve categorisation of health conditions on the A-Z conditions list, helping people with rare conditions to find their disease
- optimise the navigation on the A-Z conditions list to make it easier for people with rare conditions to find research related to their condition
- include at least one member of the rare condition community in each round of user testing for future developments to the service
Diagnostic odyssey
In line with Action 17 in last year’s work plan, we have worked with DHSC to commission research to measure the time and manner in which people have their conditions diagnosed - known as the ‘diagnostic odyssey’. Following a two-stage application process, we are currently in contract negotiations with the successful applicant.
Fellowships
Our Academy has active agreements to co-fund fellowships in research charities for rare diseases, including with the Cystic Fibrosis Trust, Motor Neurone Disease Association and Stroke Association. These have been set up to speed up the discovery of new treatments and insights into rare diseases. This follows the government’s pledge in October 2023 to invest £50m into motor neurone disease over the next five years.
NIHR Chief Executive Professor Lucy Chappell said:
“Rare diseases is a collective term for a wide range of conditions, each of which can seriously impact the life of the person with one, and their families. Taken together, they represent a significant category of illness, with significant human and economic costs.
“As this new action plan shows, we remain committed to improving the lives of people with a rare disease, by ensuring that researchers are provided with the right resources and support, and that the views of patients are heard and included at every stage.”
Read more about the NIHR’s work on rare diseases.