Dr Rick Thompson
CEO, Beacon: for rare diseases
UK rare disease research is evolving. Learn about recent investments, EU collaborations and the pivotal role of patient experiences in advancing meaningful treatments.
People living with rare diseases are lacking effective treatments. Many rare conditions remain untreated, and reliable information is hard to find — whether it’s due to genetic complexity or limited research in affected children. Overall, comprehensive rare disease research is hindered by limited patient populations and insufficient investment.
Interruption in UK rare disease research
Following Brexit, the UK’s access to many EU projects, including Horizon Europe and the European Reference Networks, became limited. This made it harder to secure international research funding and engage with the collaborative networks that are vital to successful rare disease research.
New and evolving research landscape
The announcement of the UK’s reassociation to Horizon Europe in September 2023 is therefore a significant step for the UK rare disease community. A return to the premier source of European research funding, which has actively championed rare diseases, serves as the capstone to a year of positivity for UK rare research.
In July, the Medical Research Council and NIHR announced a new £14 million investment into a UK Rare Disease Research Platform. This will be complemented by a £40 million investment by LifeArc to fund rare disease research centres around the UK.
These schemes all aim to address the core problems facing untreated rare disease patients by pooling funding, expertise and experience into a central network. This will allow them to focus on a specific rare challenge and turn good science into treatments for patients.
Researchers can only help people living
with a rare disease if they truly understand
the problems they are facing.
Patient experience: key to research delivery
Even with all the investment and scientific knowledge in the world, researchers can only help people living with a rare disease if they truly understand the problems they are facing. Patients need to be placed at the heart of new research programmes, providing their opinion and expertise to guide science in the direction needed to produce meaningful, impactful and cost-effective treatments.
Thankfully, there is a real desire within the new UK networks, as well as recently funded EU projects like REMEDi4ALL, to bring this patient perspective into everything they do. If successful, the UK rare disease community can be optimistic that the research landscape is on the verge of a significant step forward, one which should ensure benefit to those living with a rare disease every day.
