Rare disease research is vital to patients. Now let’s use it to improve services.

Rosie Collington of Rare Disease UK writes...

The UK has a reputation internationally as a leader in rare disease research. Over the past few months at Rare Disease UK, we’ve been speaking with patients, families, patient organisations and organisations involved in rare disease research to find out what is being done to meet the research aims of the UK Strategy for Rare Diseases.

Rare disease research is vital to patients. Now let’s use it to improve services.

We wanted to know what is being done to ensure patients are involved and engaged in research. Our feedback from patients has formed part of the All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions’ inquiry into the implementation of the Strategy in England.

In case you haven’t heard of it before, the UK Strategy for Rare Diseases is a document published in 2013 by the Department of Health to improve services for people affected by rare diseases. Containing 51 commitments, the Strategy aims to ensure that health and social care across the four nations provide those living with rare conditions with the highest quality of evidence-based care and treatment, regardless of where they live in the UK.

Research aims

It’s clear that a lot has been done in the field of rare diseases research since the publication of the Strategy in 2013 – and it seems apt that the theme for Rare Disease Day this year is ‘research’. Rare Disease Day is an annual event that takes place on the last day of February. The main objective of the day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives. Today, on Tuesday 28 February, thousands of people will join events across over 85 countries.

For the majority of rare diseases, there is no cure or effective treatment. Research can lead to the identification of previously unknown diseases and can increase understanding about other diseases as well. It can enable doctors to give a correct diagnosis and provides information to patients about their disease. It can lead to the development of new treatments – and in some cases, a cure.

After the publication of the Strategy, the National Institute for Health Research (NIHR) launched the Rare Diseases Translational Research Collaboration (RD-TRC), which aims to empower those affected by rare diseases by involving patients in research and research funding decisions. Patients and carers are also involved in showcasing its work and its training activities. In October 2016, the RD-TRC ran The Think Research! Rare Diseases Patient Day in London. The APPG’s report quotes Becks Breslin, founder of charity Beat SCAD (spontaneous coronary artery dissection), who co-ran a session on running a successful patient group at the event:

“The Think Research Rare Diseases Patient Day was a fantastic experience – it is wonderful that the NIHR are hosting these events as they are enabling patients and families affected by rare disease to share experiences, learn more about the industry and have a platform to ask questions.”

The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) is another initiative that has been developed in response to the Strategy. It records the diagnoses of people affected by rare diseases across England, providing information that is crucial for research into these conditions and how to treat them.

Research alone is not enough

But, as the report launched by the APPG today shows, research alone is not enough. Despite the strides that have been made in improving rare diseases research and patients’ engagement in it since 2013, a number of other key areas lack evidence of progress. Many commitments about diagnosis and early intervention, care coordination and access to specialised treatment have yet to be achieved – and if research does not translate into improvements of the services patients need, it is not enough.

The APPG’s report into the implementation of the Strategy shows that many patients still don’t have access to appropriate treatment or even information about their condition. Patients’ health and social care continues, for the most part, to be poorly coordinated. On the whole, patients and families do not feel involved in decisions about their care and treatment.

The APPG has also learned that there has been poor communication between organisations responsible for implementing individual commitments, and other stakeholders involved in the Strategy. This isn’t good enough. Learning about what is being done to improve services can give hope to rare disease patients and their families.

Ultimately, the rarity of a person’s condition should not determine what their future looks like. That is why the APPG’s key recommendation in the report is that the Department of Health should develop a comprehensive implementation plan that describes actions for its arm’s length bodies and anticipated dates for completion.


The APPG is optimistic that implementation of the Strategy will significantly improve the lives of rare disease patients and their families – and will help to ensure that England’s successes in rare diseases research affect broader change across our health and care systems.

Do you want to help raise awareness of rare diseases and influence decisions in parliament? Telling your MP about issues that affect you can be a really powerful way to make change. We have put together a letter template so you can write to or e-mail your MP to raise awareness about rare diseases. You can download the template here. If you’re not sure who your MP is, you can find out here.



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