Giving rare diseases a platform

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How forming a new UK Rare Disease Research Platform will bring better understanding of rare diseases, leading to better diagnosis and therapy.

Last month, we launched a joint funding opportunity together with the National Institute for Health and Care Research (NIHR), to form a new UK Rare Disease Research Platform in 2023.

Due to the large number and variety of diseases involved, rare disease research is distributed across the UK. This is an exciting opportunity for us to bring the right people, patients and technology together for impactful research.

Why the focus on rare diseases?

A rare disease is one that affects fewer than 1 in 2,000 people. However, as there may be thousands of such diseases, around 1 in 17 people in the UK have a rare disease. This means that many people in the UK are touched by rare diseases and they can often have an immense impact on the person and their family. Rare diseases disproportionately affect children and more than 30% of children with a rare disease die before their fifth birthday.

Rare diseases can be caused by the interaction of different factors, both genetic and non-genetic. This means that rare disease research is massively varied and covers the full range of research types, such as:

  • molecular and mechanistic understanding
  • natural history and epidemiology
  • data science
  • experimental models
  • human studies
  • diagnostics and therapies.

To name just a few!

So why is the platform needed?

The UK has great strengths in rare disease research, in our world-leading universities, hospitals and industry settings. However, precisely because of the rare nature of these diseases, it can be hard to bring the right people, patients and technology together for impactful research.

For example, a clinician trying to understand a person’s rare disease and treatment options, may not have links to scientists with the tools that can address the relevant research questions. International connections are also essential and provide access to the best research wherever it is done globally. Connections also enable clinical studies or drug trials to be done when they would have too few participants to be meaningful if restricted to only in one country.

Although rare diseases can be very different from one another, they may also bring common challenges for both scientific understanding and clinical management. There is an opportunity to derive benefits for people affected by rare diseases by identifying aspects of diseases that can be addressed with a common diagnostic or therapeutic approach. Identifying common features or mechanisms could reveal, for example, key molecules that may be good therapeutic targets for multiple individual rare diseases, or even for related common diseases.

How will the platform help?

The platform will coordinate and network many existing research strengths and investments across the UK, in order to:

  • link the UK to international activities
  • bring together the full range of stakeholders
  • enable research by supporting a number of ambitious and varied projects, each with a specific deliverable that will advance rare disease research.

How has the Medical Research Council (MRC) funded rare disease research so far?

MRC has a longstanding interest in rare disease research. We often fund rare disease projects, including when rare conditions can provide a scientific insight into fundamental questions about human biology and function.

Rare diseases are naturally included in many of our strategic interests, for example advanced therapeutics or precision medicine. Rare diseases are also an agreed priority for one of our research boards, although rare disease research can be submitted to almost all of our funding schemes.

What’s the bigger picture?

At the national level, the 2021 UK Rare Diseases Framework and national action plans provide structure and motivation. The Framework aims to improve the lives of people living with rare diseases. This includes enhancing their clinical experience and supporting pioneering research that is essential to the understanding, diagnosis and therapy of rare diseases.

Alongside MRC, the NIHR is another major public funder of rare disease research. As part of the Framework activity, it has been fascinating to begin work with colleagues at the NIHR to better understand the UK rare disease research landscape.

Capturing the breadth and variety of research that is relevant to rare diseases does bring technical challenges. But there is a real opportunity to add value, for example by looking for cross-disease connections, perhaps by common molecular mechanisms.

Funding from research charities and from industry are essential parts of the research pipeline for rare diseases. There is an opportunity to better understand and support this, to allow research to flow from understanding through to the better diagnosis and therapy of more rare diseases.

How can I get involved?

Collectively, this investment of around £12 million will underpin a step change in the mechanistic understanding of rare diseases, leading to better diagnosis and therapy. Start your application and look out for the launch of the platform in 2023.

Find out more

Take a look at the funding opportunity page on the UK Research and Innovation funding finder and apply by the deadline of 8 November 2022.

Look out for webinar slides and questions and answers that will be shared on the funding opportunity page, explaining how researchers can apply to help make the platform happen.

Top image:  Credit: FatCamera, E+ via Getty Images

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