Genetic Alliance UK is urging the four UK governments to ensure continued support for the 3.5 million people in the UK living with rare conditions by committing to a new UK Rare Diseases Framework.
What is the UK Rare Diseases Framework and why is it important?
The UK Rare Diseases Framework, launched in 2021, was intended to improve the lives of people living with rare conditions in the UK. Co-signed by health ministers across all four nations, the Framework was informed by a public consultation, including over 6,000 responses to the National Conversation on Rare Diseases Survey. The Framework is vital as it provides a unified national strategy, focusing on four key priorities: faster diagnosis, improved care coordination, better access to specialist care, treatments, and medications, and increasing awareness of rare conditions among healthcare professionals.
Download our UK Rare Diseases Framework factsheet
Has the UK Rare Diseases Framework made progress?
The UK Rare Disease Framework has delivered some significant progress. The development of the Rare Disease Research UK , a UK-wide platform that aims to advance rare disease research, has established 11 research nodes for rare conditions. Work is underway to develop a rare conditions Quality Standard and an Independent Advisory Group has been established to consider how to improve awareness of rare conditions among healthcare professionals. The four governments of the UK have been responsible for the implementation of the framework in their own nation. Key initiatives include information hubs in Scotland and Northern Ireland, a SWAN clinic in Wales, and rare disease registries across England, Wales, and Scotland.
Genetic Alliance UK contributed to the Specialised Healthcare Alliance’s report ‘Refreshing the UK Rare Diseases Framework Reflections on progress to date and lessons for the future’. The report provides an overview of the progress achieved to date.
How have Genetic Alliance UK informed the delivery of the UK Rare Diseases Framework?
Genetic Alliance UK has played a significant role in the delivery of the UK Rare Diseases Framework since it was published.
Here’s how we have contributed:
- Genetic Alliance UK was instrumental in the Framework’s initial development providing opportunities for the rare community to shape the Framework’s foundational principles.
- Through membership of both the UK Rare Diseases Framework Board and the UK Rare Diseases Stakeholder Forum we have been able to influence the Framework’s strategic direction and implementation.
- Rare Disease UK’s Patient Empowerment Group (PEG) is an important collective of people in the genetic, rare and undiagnosed community who play a vital role in monitoring and progressing the implementation of the UK Rare Diseases Framework. PEG is fully independent and ensures that people affected by genetic, rare and undiagnosed conditions remain at the heart of policy development. Through the group, the Departments for Health and their arm’s-length bodies in each UK nation are held to account on their commitments in the Framework. These bodies also consult PEG to ensure that the rare condition community is informed and effectively represented in policy development.
- We have actively supported the Framework’s delivery in the devolved nations. This includes holding important roles on the Scottish Rare Disease Implementation Board and the Welsh Rare Diseases Implementation Network. We’ve also supported the implementation of plans in devolved nations through our work in Scotland to produce Rare Resources guides for individuals and healthcare professionals available on NHS Inform and conducting a healthcare professional survey. In Wales, we supported the development of the first SWAN clinic for undiagnosed children.
- We’ve provided crucial insights to each nation’s delivery groups by sharing findings from our impactful reports: Good Diagnosis, Genetic Alliance UK’s report from 2022 on improving the experiences of diagnosis for people with rare conditions, our 2023 Coordinating Care report which shares learnings from the experiences of people living with rare conditions and Stats Behind the Stories, a Genetic Alliance UK report we published on Rare Disease Day 2024. These reports highlight challenges in achieving timely and accurate diagnoses, address the complexities of fragmented care pathways, and provide data-driven evidence of impact of rare conditions.
- Genetic Alliance UK provides the secretariat to APPG on Genetic, Rare and Undiagnosed Conditions in Westminster and the CPGs (Cross-Party Groups) in the Scottish and Welsh Parliaments. We have used these groups as forums to effectively inform and scrutinise the Framework’s implementation.
- Each year we hold Rare Disease Day receptions in Westminster, Holyrood and the Senedd. Our receptions are attended by the relevant Ministers from each nation and are often used by Ministers to make policy announcements or launch new Action Plans or initiatives relating to the UK Rare Diseases Framework. For example, Ashley Dalton, Parliamentary Under-Secretary of State for Public Health and Prevention, launched the 2025 Rare Disease Action Plan for England at our Westminster Rare Disease Day reception.
Ashley Dalton, Parliamentary Under-Secretary (Department of Health and Social Care), launches the 2025 Rare Diseases Action Plan for England at Genetic Alliance UK'S Rare Disease Day Parliamentary Reception in Westminster.
The campaign for renewal of the UK Rare Diseases Framework
The current UK Rare Diseases Framework comes to an end in January 2026 and there is strong support for renewing the Framework. The existing Framework has laid strong foundations and since its publication, new opportunities have emerged. Scientific developments have deepened our understanding of rare conditions and exciting innovations such as Artificial Intelligence (AI)-driven diagnostics, genomic testing, cell and gene therapies, and digital care support have progressed, presenting opportunities to improve health outcomes and reduce inequalities.
We cannot afford to lose momentum at this critical point. As we enter the final year of this Framework, we must make preparations for what comes next.
We are calling on the governments of the UK to commit to renewing the UK Rare Diseases Framework.
A manifesto for rare diseases
In March 2024, Genetic Alliance UK published a ‘Manifesto for rare diseases’ in partnership with the Specialised Healthcare Alliance (SHCA), a coalition of patient groups and corporate supporters who campaign on behalf of people with rare and complex conditions.
The manifesto, which formed the cornerstone of Genetic Alliance UK’s General Election 2024 pledge campaign, called on the next government to commit to building on the current UK Rare Diseases Framework by setting new ambitions for improving the lives of people with rare diseases over the next five years. The manifesto sets out our calls to action in more detail, including policy changes that could:
- Help patients get a timely diagnosis
- Increase awareness among healthcare professionals
- Improve the coordination of care
- Increase access to specialised care, treatment and drugs
Following the General Election, we wrote to the newly appointed Secretary of State for Health and Social Care, Wes Streeting, to emphasise the value of the UK Rare Diseases Framework. Read our open letter to Wes Streeting.
More than you can imagine: opportunities for a future rare diseases framework
To mark Rare Disease Day 2025, we launched the ‘More than you can imagine’ campaign. This included the publication of an impactful anthology of creative works that brought to life the experiences of individuals within the genetic, rare, and undiagnosed communities through poetry, personal stories, photography, and artwork. Alongside ‘More than you can imagine: an anthology of rare experiences’, we published a comprehensive report reflecting on the impact of the UK Rare Diseases Framework and setting the scene for what a renewed UK Rare Diseases Framework could look like.
The report, ‘More than you can imagine: opportunities for a future rare diseases framework’ recognises that the existing Framework has laid strong foundations and since its publication, new opportunities for improving the lives of people with rare conditions have emerged.
The report includes a clear call to the governments of the UK to renew their commitment to rare conditions and ensure that the successor to the existing UK Framework is supported by:
- Ring-fenced funding for each nation
- Well-resourced delivery teams for effective implementation
- Ongoing involvement of the rare conditions community
- Enhanced collaboration across the four nations, including joint initiatives
- Development of clear metrics to monitor progress and evaluate outcomes
- Regular reporting of progress to facilitate comparison and collaboration
We launched our report at Rare Disease Day receptions across the UK and the report was welcomed by the health ministers of the UK and each nation’s Rare Disease Delivery Groups
Media coverage of the campaign
Our report was also covered in national media. Our report was also covered in national media including a Rare Disease Day article from Metro featuring two families from our community, a story in the i Paper outlining the importance of the UK Rare Diseases Framework and the Telegraph Media Planet Rare Disease Supplement.
Making the case for a renewed UK Rare Diseases Framework in the context of NHS reform
This is a pivotal moment for the rare conditions community. The current UK Rare Diseases Framework concludes in January 2026, and services for rare conditions are on the brink of significant transformation.
The government has launched a new NHS 10 Year Health Plan for England, which could reshape healthcare delivery across England. This comes alongside proposals to merge NHS England into the Department of Health and Social Care.
We’ve strongly urged the government to ensure these reforms do not negatively impact services for rare conditions. We’ve also seized this opportunity to advocate for a renewed UK Rare Diseases Framework to safeguard and advance care for this community.
Find out more about our work on the NHS 10 Year Health Plan.
Find out more about our work on NHS England reform.