New strategy to accelerate diagnosis and improve treatment of rare diseases in the UK

The new framework will raise awareness of rare diseases, speed up diagnosis and improve care and treatment.

Millions of people with rare diseases, like Huntington’s disease or cystic fibrosis, will benefit from a new framework to raise awareness of rare diseases, speed up diagnosis and improve care and treatment.

The UK Rare Diseases Framework, signed and agreed by all four nations of the UK, builds upon the successes of the previous strategy and was developed in consultation with those living with rare diseases following the National Conversation on Rare Diseases.

Rare diseases often start through unusual patterns of common symptoms that can be hard for a GP to recognise, there can often be trips to multiple specialists before a final diagnosis is reached. This can take years and can have a big impact on patients, their families and the NHS.

The new framework sets four priorities across England, Wales, Scotland and Northern Ireland including:

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The UK Rare Diseases Framework has been developed in close collaboration with people with a lived experience. It will build on the UK’s exceptional strength in life sciences, our genomic capability, and of course the huge benefit of having the NHS, to shape our policies on rare diseases in the years to come and improve the lives of so many people."

There are 3.5 million people in the UK with a rare disease, the equivalent of 1 in 17 people.

It is currently estimated there are over 7,000 rare diseases with new conditions continually being identified as research advances. The more well known among them include Huntington’s disease, Ehlers Danlos syndromes, cystic fibrosis and systemic scleroderma, however there are many more which are not as well known or understood, which is why raising awareness is one of the key priorities of this Framework.

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"With such a vast range of rare diseases out there, it is hugely important the rare disease community was at the centre of designing the UK Rare Disease Framework."

The National Conversation on Rare Diseases survey, launched by Baroness Blackwood, aimed to identify the major challenges faced by those living and working with rare diseases, and received an amazing 6,293 responses, including from over 5,000 patients, families and patient organisations.

It provided clear evidence diagnosis and awareness of rare diseases, and difficulty in accessing specialist care were some of the challenges consistently seen as the most impactful across patients, their families and patient organisations.

New strategy to accelerate diagnosis and improve treatment of rare diseases (full article link)