We’re calling on UK governments to re-commit to the Rare Diseases Framework

28 February 2025

Today, on Rare Disease Day, we’re asking the UK governments to re-commit to the Rare Diseases Framework. It currently comes to an end in 2025 with no commitment yet from the government to renew it. The framework is the flagship cross-government policy for people living with rare diseases – like many people in the muscle wasting community – in the UK and has helped drive change and progress in all four nations.

Rare Disease Day is marked annually around the world on 28 February. It helps to raise awareness of rare diseases, highlight stories from the community and promote wider advocacy efforts to better support those living with rare diseases.

This year, we’ve chosen to join with the wider rare disease sector in the UK and call for the UK Rare Diseases Framework (RDF) to be refreshed, renewed and recharged after 2026.

The Rare Diseases Framework

The Rare Diseases Framework presents a vision, shared by all four UK nations (England, Northern Ireland, Scotland and Wales), to make sure the lives of those living with a rare condition continue to improve. There is one overall UK framework and then separate action plans developed by each nation. Each nation publishes progress reports to provide updates on their listed actions and next steps.

The Rare Diseases Framework has priority areas.

All four priorities are directly relevant to people with muscle wasting and weakening conditions, and we have been active in helping drive change in each of these areas:

• Access to a timely diagnosis,
• Greater awareness among non-neuromuscular specialist health professionals,
• Upskilling of professionals like care advisors (that support independence)
• Improved access to NHS services and treatments.   

Progress and barriers

We’re part of Genetic Alliance UK (GAUK) and the Specialised Healthcare Alliance (SHCA), two alliances who are leading on advocacy efforts in the UK rare disease area. Both organisations recently produced a joint review of the Rare Diseases Framework to help inform lessons for the future.

Since 2021, the Rare Diseases Framework has helped all four nations make progress in the actions they set out to do. Examples from the review include:

• England – advances in greater attention to care coordination in all new/revised service specifications for specialised services and in addressing issues with the regional uptake of treatments for those with very rare conditions.   
• Scotland – launched a new dedicated rare conditions information hub for NHS Scotland and helped publish a new genomic medicine strategy.
• Northern Ireland – set up a Rare Disease Society at Ulster University to improve healthcare education and training.
• Wales – the roll-out of Syndrome Without A Name (SWAN) clinics. The first set of clinics aiming to speed up diagnosis of those with undiagnosed rare diseases across Wales.

To find out more about the progress of each nation, you can register for Genetic Alliance UK’s Rare Disease Day 2025 Joint Nation Online Event on 6 March.

So far, no joint commitment has been made by governments to renew or create a new framework once the current one ends in 2025. England is due to release its last action plan on Rare Disease Day 2025, but there has been no confirmation from other nations of their final action plans. Actions across all the plans are still ongoing and some are incomplete.

Nevertheless, the review concluded there is still broad support for the priorities within the Rare Diseases Framework. We need to see a renewed commitment to the Rare Diseases Framework from UK governments, to ensure momentum isn’t lost. Any future actions also need to address barriers to effectiveness. This is why we’re supporting wider calls from alliances we are part of, such as GAUK and SHCA, for the RDF to be refreshed, renewed and recharged after 2026.