Launch of UK Strategy for Rare Diseases

We are grateful to Gentics Alliance UK for their communication below alerting us to the launch of the long awaited UK Strategy for Rare Diseases.

We are delighted to announce that the long awaited UK Strategy for Rare Diseases has now been published!

This document brings hope to the millions of people in the UK who are affected by rare conditions. Key features of the Strategy include:

  • a clear personal care plan for every patient that brings together health and care services, with more support for them and their families
  • help for specialised clinical centres to offer the best care and support
  • better education and training for health and social care professionals to help ensure earlier diagnosis and access to treatment
  • promoting the UK as a world leader in research and development to improve the understanding and treatment of rare diseases

To achieve the UK-wide vision for rare diseases, there are 51 recommendations which all four countries of the UK have committed themselves to. You can read them here:

Health Minister Lord Howe said:

'For the first time, we are strengthening the links between research and the treatment and care of patients with rare diseases. This is about putting those patients first, with better diagnosis, treatment and support for them and their families.'

This is what Alastair Kent OBE, Chair of Rare Disease UK, had to say about the UK Strategy:

'Patients and families affected by life limiting rare diseases have often struggled to get a diagnosis and to access services that meet their needs. While the NHS has demonstrated that it is capable of delivering a world class service, the experience of patients has been that this is by no means a universal experience.

With the development of the UK Strategy for Rare Diseases patients and families can have a clear expectation of what to expect from the NHS, wherever they live in the UK. For the first time the four nations of the UK have come together to recognise and respond to the needs of rare disease patients systematically, structurally and in accordance with the founding principle of the NHS that treatment should be a response to need.

Turning the UK Strategy’s aims into practical benefits for patients will require hard work and detailed planning. Now, at least, patients can have a clear expectation of what the NHS aspires to provide for them, wherever they live in the UK. This is a huge step forward, and the publication of the Strategy will give hope and comfort to the 3.5 million people affected by rare diseases across the UK.'

You can read the full UK Strategy for Rare Diseases here:

Our press release is available here.

Rare Disease UK's focus now shifts to a national level to ensure the ambitions of the UK Strategy for Rare Diseases are achieved. This will mean working with all of the health departments and national health services in the devolved nations to help turn the Strategy into a reality.


 Originally produced by Professor P. A. Farndon, Clinical Geneticist, Jim Costello (deceased) and Margaret Costello.  We are reliant on a team of medical advisors for the clinical content of the website. We are grateful for their continuing support. 
Gorlin Syndrome Group is Registered Charity in the UK - No 1096361 
Gorlin Syndrome community on HealthUnlocked
website security