Rare disease action plan: progress report 2026

Ministerial Foreword

As Minister for Public Health and Women’s Health, I am proud to present this report which sets out our continued commitment to improving outcomes for the more than 400,000 people in Scotland living with a rare condition. Over 7,000 rare conditions are currently known, and although each is rare in isolation, together they are collectively common and represent a substantial and important part of our population. This commonality has shaped our cross-cutting approach to rare conditions policy.

The most fundamental aspect of deciding on priorities for improvement in healthcare is that of listening. The Scottish Government was involved in the UK-wide National Conversation that led to the 2021 publication of the UK Rare Diseases Framework. This identified four key priorities: faster diagnosis; increased awareness among professionals; improved coordination of care, and access to specialist care. We then engaged extensively with the rare conditions community in Scotland to understand what these priorities meant in practice for the people most affected. This engagement informed Scotland’s Action Plan for Rare Diseases, published in 2022.

We also made a conscious shift from using the term ‘rare diseases’ to ‘rare conditions’ as much as is practical, reflecting feedback from the community and our desire to place the person not the disease at the forefront.

I would like to extend my sincere thanks to the rare conditions community in Scotland for their continued partnership. I have had the pleasure of meeting and hearing from many people through Rare Disease Day events and in many other conversations. You have not only shared your experiences, but your insight, energy and determination.

I would also like to acknowledge the chairs and members of Scotland’s Rare Disease Implementation Board (RDIB) along with our partners across the sector. Your leadership, expertise and commitment have been vital in driving the improvements set out in our Action Plan.

This report highlights the progress achieved so far. Much has been achieved that will help improve the lives of people living with a rare condition in Scotland.

As we enter the final, extended year of the UK Framework and begin planning for the next phase of work, I want to reaffirm the Scottish Government’s unwavering commitment to the rare conditions community. Your voices, your priorities and your lives remain at the centre of everything we do, and they will continue to guide our work as we strive to improve access to timely and equitable care for people living with a rare condition in Scotland.

Jenni Minto MSP, Minister for Public Health and Women’s Health