Rare disease action plan: progress report 2026

2. Our Action Plan and progress to date

The Scottish Government’s commitment to improving the lives of people in Scotland living with rare conditions is longstanding. Scotland contributed to the co-development of the 2013 UK Strategy for Rare Diseases and supported progress across its 51 commitments. There were, however, limitations to this approach: the large number of fixed, highly specific actions restricted our ability to respond flexibly to emerging developments across health and social care. This highlighted the need for a more agile and adaptable approach.

With this in mind, the four nations of the UK worked together to develop the shared priorities of the UK Rare Diseases Framework, building on extensive engagement with rare conditions communities. Each nation committed to delivering a national Action Plan setting out how the four priorities of the UK would be implemented within its respective healthcare system.

The four priorities are:

• Faster diagnosis
• Awareness raising among healthcare professionals
• Better coordination of care
• Improved access to specialist care, treatments and drugs.

Scotland’s Rare Disease Implementation Board (RDIB) was established in 2021 to develop and subsequently oversee the implementation of the 18 actions set out in our Rare Disease Action Plan which was published in December 2022. The RDIB brings together clinicians, scientists, third sector partners and representatives of the rare conditions community. The Board was first chaired by Dr Jonathan Berg, a clinical geneticist. Leadership later passed to Dr Martina Rodie, a consultant neonatologist and clinical lead for the Office for Rare Conditions in Glasgow - with co-chair support for a time from Dr Ruth McGowan, a clinical geneticist.

To ensure that our work in Scotland remained grounded in the lived experience, we also established a Patient Voices Advisory Group. This Group contributed to the development of our Action Plan and helped us confirm that the priorities identified continued to reflect the needs of the rare conditions community after publication.

We have made much progress in delivering our Rare Disease Action Plan. This includes aligned workstreams that supported our priorities, as well as our own actions that have either been completed or are underway. This work has been highly collaborative, involving Scottish Government, territorial and national Special Health Boards, and third sector partners – their contributions have been essential in driving progress to date, and will remain central as we move forward.