Rare disease strategy for the UK launched

The UK plans to speed up the diagnosis of rare diseases, and improve access to the medicines to treat them, as part of its first rare diseases strategy.

One of the plan's key elements will see health and social care professionals provided with better education and training to help them identify and treat patients.

Defined in the UK as a life-threatening or chronically debilitating disease that affects five people or fewer in 10,000, some three and a half million people in the country are thought to be affected by one of the 7,000 known rare diseases.

But, with long waits for diagnosis and a lack of clear treatment pathways, the care offered to them has varied widely - a point tacitly acknowledged by the government.

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.”

To try and address this issue the strategy will put in place a clear personal care plan for every patient, encompassing both health and care services, and there will be more support for specialised clinical centres and the care and support they offer.

Rare disease research in the UK

Another key strand to the strategy seeks to position the UK as a world leader in research and development to improve the understanding and treatment of rare diseases, building on the work of Genomics England.

“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,” said Lord Howe.

“The UK already leads the way with ground-breaking research to better understand and treat these illnesses and this strategy will help cement our reputation as the driving force in this field.”

The government also announced today that it would be investing £20m over four years in a new Rare Disease Translational Research Collaboration (TRC). Established under the auspices of the National Institute for Health Research (NIHR), the hope is this will lead to improved diagnosis, treatment and care.