The UK Rare Disease Research Platform has been established with a £14 million investment over five years by the Medical Research Council (MRC) and the National Institute for Health and Care Research (NIHR).

It is made up of a central coordination and administrative hub and 11 specialist nodes based at universities across the UK. 

The aim of the platform is to bring together expertise from across the UK rare disease research system to foster new and innovative treatments for those directly and indirectly impacted by rare conditions.

One in 2,000 people

A rare disease is one that affects fewer than one in 2,000 people.

However, there are thousands of these conditions, with around one in 17 people in the UK being affected at some point in their lifetime.

More than 30% of children with a rare disease die before they are five.

Professor John Iredale, MRC Executive Chair said: "The UK has great strengths in rare disease research. However, that very rarity means it can be difficult to bring the right people, technologies and tools together to develop effective approaches.

"Although these diseases are diverse and have different causes, they often bring common challenges for research into disease mechanisms, diagnosis, management and treatment.

"The platform will bring people together, link participants to resources and activities in the UK and internationally, and support projects that deliver advances in rare disease research."

Essential ongoing research

Professor Lucy Chappell, Chief Executive of the NIHR, said: "The UK Rare Disease Platform marks a significant advance in accelerating rare disease research, supported through NIHR funding and our partners the Medical Research Council.

"The platform will enable greater collaboration between patients and those working across academic, clinical and industry research.

"By bringing the right people and expertise together, we will be able to provide better care more quickly to those living with rare diseases.

"The NIHR continues to lead essential ongoing research into rare diseases, including through our Biomedical Research Centres, and we are making it easier for people with rare diseases to take part in research opportunities via our Be Part of Research Service, which can now be accessed through the NHS app in England.

"We look forward to working with our partners further to accelerate our understanding and treatment of rare diseases affecting millions of people across the UK.

Specialist nodes based at universities

The 11 nodes each involve several universities and organisations working together across the UK. They are:

• Epigenomics Rare Diseases (EpiGenRare) led by University of Exeter and The University of Manchester
• mTOR Pathway Diseases led by King’s College London
• Changing clinical practice in rare diseases through innovative trial designs (CAPTIVATE) led by University of Birmingham
• Histiocytic Disorders (HistioNode) led by Newcastle University and The University of Nottingham
• Lipidomics and Metabolomics led by Swansea University
• Ethical Legal and Social Issues in Rare Conditions Research and Clinical Practice (ELSI) led by The University of Manchester
• Early Assessment, Diagnosis and Treatment of Parkinson’s Plus Related Syndromes (ExPRESS) led by University College London
• Rare Early Onset Lower Urinary Tract (REOLUT) led by The University of Manchester
• Renal Ciliopathies National Network (RCNN) led by Newcastle University
• Cardiovascular Rare Disease led by Imperial College London
• UK Platform of Nucleic Acid Therapy for rare disease treatment (UPNAT) led by University College London
• A platform hub will bring these specialist nodes together and deliver wider activities for all the UK interests in rare disease research.

The hub contract has been awarded through an open competitive procurement exercise to a consortium led by Newcastle University, with Newcastle NHS Trust and Genetic Alliance UK. 

Newcastle University is part of Newcastle Health Innovation Partners (NHIP). NHIP is one of eight prestigious Academic Health Science Centres (AHSCs) across the UK, bringing together partners to deliver excellence in research, health education and patient care.

Professor David Jones OBE, Director of Newcastle Centre for Rare Disease, said: “We have a long and distinguished history of excellence in rare disease research in Newcastle. This includes world class programmes in muscular dystrophy, mitochondrial disease, immuno-deficiency, rare liver disease, rare cancer and rare renal disease – to name but a few.

“We set up the Newcastle Centre of Research Excellence for Rare Disease to bring these areas of excellence together  – working across Newcastle University and Newcastle Hospitals to collaboratively improve the lives of people living with a rare disease.

“We are therefore delighted with the announcement of this new platform as it strengthens our vision of bringing experts together for the benefit of patients. It is also an honour to co-ordinate the whole platform and host two nodes.”

Professor David Burn, NHIP Director, added: “We are very proud of our outstanding reputation in rare disease research here in Newcastle and this announcement is bolsters this even further. The new platform is a great way of bringing experts together and I look forward to seeing how this innovative, cross sector working will benefit patients.”

The Newcastle Centre of Research Excellence for Rare Disease unites over 100 experts from across Newcastle University and Newcastle Hospitals – working collaboratively to improve the lives of people living with a rare disease. By bringing together a breadth of scientific expertise alongside patient cohorts, the centre can provide a single front door in the design and execution of clinical research, providing a better disease understanding, developing and delivering better treatments, optimising care and influencing policy.

This wider investment includes support for a range of rare diseases research through NIHR’s Biomedical Research Centres - including the NIHR Newcastle Biomedical Research Centre, which sits at the heart of Newcastle's world-leading centre for the study and treatment of rare diseases.

Platform will support new projects

The platform will bring greater coordination to UK research into rare diseases. It will provide a point of entry for industry and international partners and aim to attract investment into UK research.

It will also support a set of new projects that will identify and solve particular challenges and unblock progress across many rare diseases or groups of rare diseases.

The UK government recently established a UK Rare Diseases Framework.

Each nation of the UK has published action plans that aim to ensure those living with rare diseases receive better care and treatment and more rapid diagnosis.