Natalie Frankish
Head of Scotland and Public Affairs, Genetic Alliance UK
Learn why renewing the UK Rare Diseases Framework is crucial to improve the lives of the 3.5 million people living with a rare condition.
There are around 7,000* rare conditions,1 with new conditions identified regularly through scientific progress.
Individual experiences with rare conditions
To mark Rare Disease Day 2025, Genetic Alliance UK published ‘More Than You Can Imagine: An Anthology of Rare Experiences’ capturing individual experiences and demonstrating the impact of rare conditions on their sense of self, relationships and wellbeing.
Challenges in obtaining a diagnosis, barriers to accessing care and treatment, poorly coordinated care, as well as challenges with employment, education and local government support can all impact a person’s ability to manage their daily life.
Despite a lack of dedicated funding and
pressures on the NHS limiting new
initiatives, the Framework has managed
to drive significant advancements.
The UK Rare Diseases Framework (2021–2026)
The UK Rare Diseases Framework, published in 2021 and co-signed by health ministers, sought to address many of these issues.
Despite a lack of dedicated funding and pressures on the NHS limiting new initiatives, the Framework has managed to drive significant advancements. These include:
- Launch of Rare Disease Research UK
- An independent Advisory Group to develop a rare disease quality standard
- Rare disease information hubs in Scotland and Northern Ireland
- SWAN (Syndromes Without A Name) clinics to coordinate care for those with undiagnosed genetic conditions in Wales
- Development of rare disease registration services providing data to inform research, healthcare planning and clinical care
Framework for the future
The existing Framework has laid the foundations, but there is still much to be done. Genetic Alliance UK’s report, ‘More Than You Can Imagine: Opportunities To Improve The Lives Of Those With Rare Conditions’ recognises that new ambitions are needed to capitalise on innovations such as AI-driven diagnostics, genomic testing, cell and gene therapies and digital care support, which could reduce the inequalities that people living with rare diseases face.
[3] We can expand rare disease registries, build from pilots to improve care coordination and embed mental health support throughout the diagnostic journey. Our community demands that the Governments of the UK renew their commitment to rare conditions and refresh the Framework for 2026 and beyond.
[1] Source: Department of Health and Social Care. 2021. UK Rare Diseases Framework.
