The UK’s first strategy to ensure those living with a rare disease have access to the best evidence-based care and treatment was launched by Health Minister Lord Howe on Friday 22nd November 2013. The UK Rare Diseases Strategy aims to ensure none of the three million people affected in the UK get left behind because they have a rare disease.
For the first time, the Strategy sets out a UK-wide vision for improving the lives of all those with rare diseases. The focus throughout is patients and families. The Strategy highlights the country’s reputation as a world leader in rare disease research, including revolutionary genomics research.
In parallel with the launch of the UK Rare Diseases Strategy, the Government announced that NIHR is establishing a Rare Diseases Translational Research Collaboration (TRC). With investment of £20 million over four years, the NIHR Rare Diseases TRC will help to increase research collaboration that will lead to improved diagnosis, treatment and care for people with rare diseases.
At its core, the TRC will consist of NIHR Biomedical Research Centres (BRCs), NIHR Biomedical Research Units (BRUs) and NIHR Clinical Research Facilities (CRFs), with outstanding facilities, capacity and research expertise into rare diseases. Within this, the NIHR funding will support “deep” phenotyping, the gathering of information on the physical characteristics of people with rare diseases, which combined with data on genomic abnormalities will provide greater understanding of the mechanisms underlying these illnesses and help to create insights into improved diagnosis and treatments.
A rare disease is a life-threatening or chronically debilitating disease that affects five people or fewer in 10,000, and requires special, combined efforts to enable patients to be treated effectively. There are already more than 5,000 rare diseases identified and it is estimated that one in 17 people will suffer from a rare disease in the course of their lifetime. In the UK, this means more than three million people will have a rare disease.
Professor Dame Sally C. Davies, Chief Medical Officer and Chief Scientific Advisor at the Department of Health said:
“Although individually these diseases are rare, together they affect a great number of the UK population. Rare diseases have a high impact on many people’s lives and collectively form a large part of the work of the NHS. I am delighted that we have launched the new NIHR Rare Diseases Translational Research Collaboration, which will provide national coordination to bring together world-leading researchers within the NIHR research infrastructure to increase research collaboration and speed up improvements in diagnostics, treatment and patient care.
The UK is at the cutting edge of research in rare diseases internationally. Through the new UK Strategy for Rare Diseases and research through the NIHR, particularly the new NIHR Translational Research Collaboration, we are building on our heritage as a global leader.”
For more information regarding the launch of the UK Rare Diseases Strategy, please visit https://www.gov.uk/government/news/better-support-treatment-and-research-for-millions-of-patients-with-rare-diseases