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Rare Diseases

Implementation Plan for Rare Diseases in Scotland

We are taking forward a programme of actions that will fulfil Scotland’s commitments to the UK Strategy for Rare Diseases, by working through our Implementation Plan, It’s Not Rare To Have A Rare Disease.

We have just published a report based on progress made in Scotland towards these commitments, to coincide with the second biennial UK-wide progress report, and with Rare Disease Day:


We are helping to improve services for people in Scotland living with a rare disease and their family members by:

  • Taking forward the ‘Make It Easy: A Health literacy Action Plan For Scotland’ plan to help empower people with a rare disease to be more fully informed about their condition, its effects and treatments available.
  • Taking forward the 51 recommendations in the UK Strategy and how they apply to the Scottish Implementation plan.
  • Supporting the Scottish Genomes Partnership with research funding from the Chief Scientist Office.  1,000 participants from Scotland will contribute to the 100,000 Genomes Project.
  • Participating in European Research Networks.  The UK is leading on six ERNs, five of which are in partnership with Scottish hospitals.
  • Improving data quality for rare diseases by developing a Congenital Anomalies Register.  The Scottish Government has funded scoping work for this, which is now underway.


Following a European Union Council Recommendation on rare diseases, in 2012, the four countries of the UK jointly produced a strategy for the UK:

The key focus themes of the strategy are:

  • Empowering those affected by rare disease
  • Identifying and preventing rare diseases
  • Diagnosis and early intervention
  • Co-ordination of care
  • The role of research

Each of the four countries then agreed to develop their own implementation plan to reflect local health system arrangements and plans for the delivery of improvements.  The Implementation Plan for Rare Diseases in Scotland aims to improve services for people living with a rare disease and their family members:

The plan sets out how Scotland will deliver the 51 commitments from 2014 to 2020.

These developments will support the Scottish Government’s National Clinical Strategy and Health & Social Care Delivery Plan.