Maintaining momentum in rare diseases
The mission for better rare disease outcomes requires long-term action across the NHS, government, and system partners
Rare Disease Day (28 February or 29 February in leap years) brings the community together to shine a spotlight on the challenges faced by those affected by rare conditions, and where policy change is needed to support equitable diagnosis, care, and treatment.
Recognition of rare diseases as a health issue in the UK is growing thanks to advocacy by individuals and groups representing patients and clinicians. Despite these efforts, public awareness about their impact remains low and sustained political attention is key.1
In the UK, 1 in 17 people could be affected by a rare disease at some point in their lives. This equates to over 3.5 million individuals living with one of the estimated 7,000 known rare diseases.2 These can be life-changing and sometimes life-threatening conditions in adults and, more often, children with a significant impact on their families and carers. The rarity of someone’s condition can mean that little is known about it, leading to a lack of understanding and appropriate support. It can also still take years for people to receive a definitive diagnosis and there remain no approved treatments for many conditions.2
Maintaining a national focus that works for rare
The current UK Rare Disease Framework published in 2021 captured the range of challenges faced by the rare disease community.2 February 2025 will see the publication of the final annual action plan for England by the Department for Health and Social Care (DHSC) before the Framework expires in early 2026.
Charities and politicians are calling for the renewal of the Framework to maintain a national-level focus within NHS policy and across relevant areas beyond healthcare including research, data, and technology.3, 4 The DHSC’s planned review of the impact of the current Framework should help to inform how a successor policy can be designed and delivered to achieve real and lasting change.
Continuing to put patients first
There is still more to do to improve how we diagnose, treat, and care for people affected by a rare condition, and this should be reflected in the upcoming 10-Year Health Plan.5 The major shifts that the government is seeking to drive in the way the NHS operates can have important benefits for the rare disease community.
Better patient experience for those with rare conditions requires effective coordination of care for patients across hospital-based specialist centres and community-based services that can be accessed closer to where they live or at home. Going from analogue to digital must consider how to use technology and NHS data to deepen our understanding of the burden of rare diseases and improve the management of patient care across services. Additionally, faster accurate diagnosis for rare conditions, including through wider use of genomic testing, can help to inform earlier treatment and care decisions and release healthcare resources.
Rare Disease Day 2025 will highlight the diverse and complex needs and experiences faced by many in their daily lives. Ensuring a long-term, connected approach for rare diseases across the NHS, government, and system partners with the right resources is vital if we are to make the most of the rapid advances in research and innovation, and achieve our shared ambition of better outcomes for this community.
This article is developed and paid for by Alexion, AstraZeneca Rare Disease.
M/UK/NP/0116 | Date of preparation: February 2025
- International Federation of Pharmaceutical Manufacturers and Associations (2015). Rare Diseases: Shaping a Future with No-one Left Behind. [Accessed: February 2025]
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GOV UK (2021). UK Rare Diseases Framework. [Accessed: February 2025]
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Genetic Alliance (2024). Refreshing the UK Rare Diseases Framework. [Accessed: February 2025]
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House of Commons (2024). Rare Autoimmune Rheumatic Diseases: Volume 758. [Accessed: February 2025]
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GOV UK (2024). Change NHS: Help Build a Health Service Fit for the Future. [Accessed: February 2025]
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