Rare diseases in the UK: key updates
Rare diseases affect over 3.5 million people in the UK, yet diagnosis can take over five years and only a small proportion have effective treatments.
The UK Rare Diseases Framework, now extended to 2027, focuses on faster diagnosis, better awareness, improved care coordination, and increased access to specialist treatment. Recent progress includes advances in genomics, expanded NHS sequencing services, and new pilot clinics for undiagnosed conditions.
The 2026 Action Plan, linked below, highlights growing investment in research and steps to tackle health inequalities, alongside wider NHS reforms to improve patient experience.
Looking ahead, regulatory changes are expected to support more flexible clinical trials, greater use of real-world data, and the development of rare disease registries, helping accelerate access to new therapies.
Together, these developments signal continued progress towards more timely diagnosis, coordinated care, and improved outcomes for people living with rare diseases.
The Department for Health and Social Care has published an update on all actions relating to the England Rare Diseases Action Plan, you can view this below.
England Rare Diseases Action Plan 2026, annex A: actions and status – GOV.UK
