The government is asking for our views on a plan for rare diseases

Posted on February 29, 2012 by


Today is Rare Disease Day – that’s for diseases that affect less than 5 in 10,000 people – and the Department of Health have launched their proposals for a UK plan for rare diseases aimed at improving the services, treatment and support that people with rare disease receive.

They are now going to consult on the contents of the plan – the consultation closes on 25 May. Their proposals cover research and the role of patients in influencing policy and fostering research.


Rare diseases affect a lot of people – 1 in 17 people at some point in their life. The UK signed up to a Council of the European Union communication on rare diseases back in 2009 . This committed the UK to developing a national strategy for rare diseases by the end of 2013.

Those with rare diseases and charities and organisations representing them teamed up to create Rare Disease UK – a national alliance which set out to campaign for the health departments across the UK to develop this strategy. AMRC are part of Rare Disease UK. They established working groups of experts and produced a report called Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy recommending what a strategy should look like if it is going to be comprehensive and effective, and accurately reflect the needs of the rare disease community.

Rare Disease UK has also worked closely with the Department of Health and devolved parliaments to champion the need for the strategy and what it should cover.

Read a great blog by Alistair Kent, Chair of Rare Disease UK, in the Independent today.

Anything of interest in today’s consultation for medical research?

Yes, lots. Research is key to improving diagnosis, care and treatment for those with rare diseases. The UK is really good at supporting research into rare disorders – in fact Great Ormond Street Hospital Children’s Charity have just announced their ambition to build a Centre for Children’s Rare Disease Research. The consultation recognises this:

The United Kingdom is at the cutting edge of international research in rare disease. Most of the biomedical research centres funded by the National Institute for Health Research (NIHR) are conducting research on rare disease. The UK participates in rare disease research at European level and will be actively involved in the new International Rare Disease Research Consortium (IRDiRC).

and the final plan will aim to:

improve co-ordination and co-operation, achieve better outcomes, strengthen research and monitoring activities, engage and empower patients and their families or carers, and raise awareness in the public and in professionals.

There is a big section in the consultation on research, outlining some of the work already afoot in the UK and also some of the initiatives underway in the plan for growth and life sciences strategy to improve safe and secure access to data which is particularly key to underpin research into rare disorders where available data may be at a minimum. The consultation poses the question:

How can the NHS best ensure research in rare diseases carried out by the NIHR biomedical research centres and units is rapidly transferred into practice for the benefit of UK patients and their families and carers?

There is also another interesting section touching on the importance of empowering those with rare conditions and recognising the major role these patients play in influencing the policy and research agenda:

Patient organisations are also active in forming partnerships in Europe and globally to influence policy and foster research. The global solidarity of patient organisations is a useful counterweight to the local priorities which sometimes influence researchers and policy makers. Within Europe, patient organisations are strongly represented on the newly formed Committee of Experts on Rare Disease.

What now?

Rare Disease UK will be coordinating a response to the consultation. AMRC will also be taking a look – lots of our members fund research into rare conditions and will have specific input on the proposals for research.


Posted in: Policy