25.11.13
Rare diseases ‘not so rare’ – Lord Howe
The UK’s first Rare Diseases Strategy has been launched to build understanding and boost research for the three million people affected by such conditions in the country.
The strategy includes a clear personal care plan for every patient, support for specialised clinical centres, better education and training to achieve earlier diagnosis and access to treatment.
There are over 5,000 rare diseases identified, and one in 17 people in the UK are estimated to suffer from a rare disease within the course of their lifetime.
The National Institute for Health Research has also launched a Rare Diseases Translational Research Collaboration (TRC) with £20m funding over four years to increase research collaboration in the UK.
Health minister Lord Howe said: “Millions of people in the UK are affected by the thousands of different kinds of chronically debilitating illnesses that are defined as rare diseases. So when looked at as a whole, rare diseases are not rare and our focus should be on making sure that no one who suffers from one is left behind.
“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.
“The UK already leads the way with groundbreaking research to better understand and treat these illnesses and this strategy will help cement our reputation as the driving force in this field.”
Alastair Kent OBE, chair of Rare Disease UK, which was part of the stakeholder forum that helped shaped the strategy, said: “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.”
Professor David Goldblatt, director of clinical research and development at Great Ormond Street Hospital and director of the NIHR Biomedical Research Centre, said:
“Many of the children attending Great Ormond Street Hospital suffer from rare diseases. Their families’ experience of delays in the recognition of their syndrome or the absence of a clear diagnosis can be profoundly affecting. We look forward to continuing our work, in partnership with local NHS Trust and Primary Care physicians, in improving the experience of families with rare diseases.
“Rare diseases are under-researched at present and in response, the NIHR-funded Biomedical Research Centre at GOSH/UCL is now focusing almost exclusively on rare disease experimental research. While Great Ormond Street Hospital has made some great strides, for example in pioneering gene therapy, much more work needs to be done.
“Our ambition is to invest in rare disease research and advance understanding and treatments for the benefit of patients across the world. The hospital’s charity is building a new Centre for Children’s Rare Disease Research for the hospital and UCL Institute of Child Health, which will play a key role in developing therapies for many disorders for which no treatment or cure currently exists.”
Dr Richard Reading, consultant community paediatrician and chair of the British Paediatric Surveillance Unit (BPSU), said: “More than 700,000 children in the UK are affected by a rare disease – so taken collectively, these conditions are not so rare.
“Today’s strategy puts rare diseases, and most importantly those affected them, firmly on the political agenda. As well as supporting those with rare conditions and emphasising the importance of early diagnosis and intervention, it also highlights the crucial role of research.
“The BPSU enables doctors and researchers to find out how many children in the UK are affected by particular rare diseases or conditions each year. We look forward to working with the Department of Health and other partners to support children and families affected by rare disease, to speed up research and to put this strategy into action.”
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