Nicola Perrin
Chief Executive, Association of Medical Research Charities (AMRC)
Discover how UK charities and research drive progress in rare disease diagnosis and treatment. Learn about key investments and plans in the latest report.
It can take over five years to get a proper diagnosis for rare diseases in the UK. Only 5% of these diseases have approved treatments, and the UK lags behind other countries in providing access to such treatments.
Research driven by patient needs
Rare diseases are a great burden on the lives of patients, their families and carers. With physical and psychological symptoms that reduce life expectancy and quality of life, they seriously impact day-to-day activities, independence and wellbeing.
So how do we tackle the unmet needs of the rare disease community? Research — research shaped and driven by those with experience of the diseases. This is where our charities step in.
Rare diseases are a great burden on the
lives of patients, their families and carers.
Investments in rare disease research
Over the last 10 years, 143 medical research charities have funded more than £2.1 billion in rare disease research. They contribute half of public investment in UK rare disease research, funding across the pipeline from fundamental science to clinical trials.
Driven by patient priorities, they are building capacity in the workforce, developing research resources, improving diagnosis, transforming clinical trials, accelerating access to treatments and catalysing partnerships across the sector. You can find several compelling examples in the ‘Charities in action: tackling rare diseases’ report by the Association of Medical Research Charities (AMRC).
There have also been many significant investments beyond the charity sector. Since 2021, the National Institute for Health and Care Research and the Medical Research Council have invested £14 million into the UK Rare Disease Research Platform. LifeArc provided £100 million for rare disease research including £40 million for a network of Translational Rare Disease Centres. The Government published the UK Rare Disease Framework and two Rare Diseases Action Plans. We look forward to seeing what further commitments 2024 will bring.
Collaboration boosts rare disease research
The charity, public and industry sectors must continue to work together to build, shape and strengthen the UK’s rare disease research landscape. It is only by combining resources and adopting innovative approaches that we can accelerate the delivery of the diagnostics, treatments and care that rare disease patients deserve.
