The National Institute for Health and Care Research (NIHR) has welcomed the recent publication of the Government’s Rare Disease Action Plan 2024, which highlights the work that has so far been done by the NIHR, the Department of Health and Social Care (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 2,000 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.
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.
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.
In partnership with DHSC, the NIHR carried out a user survey of how people with rare conditions use the NIHR Be Part of Research site, to make it easier for people to get involved in clinical trials. NIHR will also lead the way in implementing the recommendations from the survey, with all milestones to be implemented by Autumn 2024.
In line with Action 17 in last year’s work plan, the NIHR has 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, the successful applicant is currently in contract negotiations.
NIHR Chief Executive Professor Lucy Chappell said: “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 diseasesat https://www.nihr.ac.uk/explore-nihr/specialties/genomics-and-rare-diseases.htm.