Rare diseases

Rare diseases are those that affect a small number of people – 5 people or fewer in 10,000. There are between 6000 and 8000 rare diseases that affect approximately 8 per cent of the population in Scotland. That means approximately 424,000 people out of a population of 5,295,000 in Scotland have a rare disease. 

We aim to improve services for people living with a rare disease and their family members by:

  • taking forward the 51 recommendations in the UK strategy for rare diseases
  • helping to empower people with a rare disease to be more fully informed about their condition, its effects and treatments by taking forward the actions in the health literacy action plan 2017-2025

A joint UK strategy for rare diseases was published in November 2013 which contained 51 recommendations. The 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

In July 2014 we published our implementation plan for rare diseases in Scotland which sets out how we will achieve the 51 commitments by 2020.  We published a progress report on this work in February 2018. 

Rare Disease Strategy Oversight Group (RDSOG)

We set up a Rare Disease Strategic Oversight Group (RDSOG) in 2014. The RDSOG oversees and monitors progress towards achieving the commitments in the implementation plan.  Specifically the role of the RDSOG is to:

  • oversee the implementation of the actions across the 5 themes in the UK Strategy for Rare Diseases
  • co-ordinate and evaluate the implementation of the “Its not rare to have a rare disease” plan and promote sharing of best practice 
  • oversee the development of rare disease policy across Scotland and contribute to wider UK rare disease policy
  • advise the Health and Social Care Directorate on issues relating to rare disease across Scotland 
  • contribute to wider policy areas that impact on people living with rare diseases to ensure that it has appropriate links with the wider rare disease community and other groups to ensure it provides the best possible advice

The RDSOG are focussing on the following priorities in order to meet the commitments by 2020, some of which will be taken forward by short life working groups:  

  • co-ordination/navigation of care
  • raising awareness of rare diseases amongst healthcare professionals, especially in terms of access to information
  • research – in particular the development of the Congenital Anomalies Register -and helping to facilitate a faster journey between research and service for people with a rare disease

More information

More information on rare diseases is on the Rare Disease UK website.

Information and support for those affected by a syndrome without a name is on the SWAN UK website.

Information for patients, families and anyone interested in genetic conditions is on the Genetic Alliance UK website. 

Information on NHS Scotland's national networks is on the NHS Services Scotland website.