Page URL:

First UK-wide rare disease strategy launched

25 November 2013
Appeared in BioNews 732

A strategy to improve diagnosis, research, and treatment of rare diseases has been launched by the UK Government.

The UK Rare Diseases Strategy covers services including primary healthcare, specialised clinical centres and targeted funding for biomedical research.

A rare disease is one that occurs in less than one in 2000 people. Collectively, rare diseases affect more than three million people in the UK, and more than 5000 rare genetic diseases have been identified.

The strategy aims to increase support for rare disease patients and their families from healthcare services. It will also offer support for specialised clinical centres and training for health and social care professionals to improve rare disease diagnosis and access to treatment.

The National Institute for Health Research is establishing a Rare Diseases Translational Research Collaboration, with funding of £20 million over four years to build on existing UK expertise in rare disease research, including genomic research.

Alastair Kent, chair of Rare Disease UK, part of the stakeholder forum that helped shaped the strategy, said that '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. Turning the UK Strategy's aims into practical benefits for patients will require hard work and detailed planning [but] at least patients can have a clear expectation of what the NHS aspires to provide for them'.

Specialised Healthcare Alliance director John Murray warned that 'a robust approach to monitoring must be developed to track the strategy’s impact on patient experience and outcomes'. He noted that given the recent suspension of NHS England’s Specialised Services Commissioning Innovation Fund, 'it is also important to ensure that clear and transparent appraisal processes are in place to encourage the development and uptake of effective new treatments'.

Better support, treatment and research for millions of patients with rare diseases (press release) |  22 November 2013
First strategy to focus on improving treatment for rare diseases
Nursing Times |  22 November 2013
Rare Diseases: New Strategy To Help Millions
Sky News |  22 November 2013
Rare diseases strategy policy paper |  22 November 2013
UK govt unveils rare diseases strategy
PharmaTimes |  22 November 2013
12 January 2015 - by Dr Charlotte Warren-Gash 
All newborn babies in England are now to be offered screening for four rare life-threatening genetic disorders...
22 September 2014 - by Siobhan Chan 
Scientists have uncovered a gene linked to a rare disease that causes respiratory problems similar to cystic fibrosis...
21 July 2014 - by Dr Sarah Testori 
Genetic Alliance UK held its annual conference to discuss and reflect on the advances in genomic sequencing and to ask (and answer) why is it important, and how can it help to improve disease treatment...
17 March 2014 - by Dr Rachel Montgomery 
Researchers have pinpointed two genetic mutations behind a severe developmental disease seen in children of Moroccan Jewish descent...
18 November 2013 - by Oliver Timmis 
The idea of a rare disease informing wider knowledge about fundamentals of biology is now well established. We have shown it in alkaptonuria research, as alkaptonuria (which affects around 80 people in the UK) is an extreme form of osteoarthritis (which affects more than eight million)...
28 October 2013 - by Dr Lucy Freem 
A three-year joint project to sequence the genomes of 10,000 rare disease patients has been announced by the University of Cambridge, Genomics England and Illumina...
9 September 2013 - by James Brooks 
A parliamentary report has recommended a ring-fenced fund to ensure access to 'low volume, high cost' treatments for rare diseases...
10 June 2013 - by Dr Shanya Sivakumaran 
Leading international healthcare, research, funding, and technology organisations will work together in a non-profit alliance to enable large-scale sharing of genetic data...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.