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NIHR investment will tackle barriers in rare disease research

Published: 05 July 2023

The NIHR is co-funding a new UK Rare Disease Research Platform. It will overcome some of the most common challenges in the diagnosis, management and treatment of rare diseases.

The Platform has been established with a £14 million investment over five years from the NIHR and the Medical Research Council (MRC). It will bring together research teams across the UK with patients, stakeholders and technologies to deliver rare disease research with greater impact.

NIHR is leading the way in supporting research to improve the lives of people living with rare diseases, making advances in developing new tests and treatments. The platform marks part of significant NIHR investment for rare disease research announced in the Rare Disease Action Plan for England in February 2023. This wider investment includes support for a range of rare diseases research through NIHR’s Biomedical Research Centres.

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 UK Rare Disease Research Platform is a network which connects experts across the country. It is made up of a central coordinating hub and 11 specialist nodes based at universities across the UK. The hub will bring these specialist nodes together and deliver wider activities to support rare disease research.

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

  • Epigenomics Rare Diseases Node led by the University of Exeter and the University of Manchester
  • mTOR Pathway Diseases is led by King's College London. It seeks to transform the understanding and treatment of 14 rare diseases that share hyperactivation of the mTOR pathway as a common underlying molecular mechanism
  • The CAPTIVATE node (changing clinical practice in rare diseases through innovative trial designs) led by the University of Birmingham
  • HistioNode (the MRC Rare Disease Platform Node for Histiocytic Disorders) led by Newcastle University and the University of Nottingham
  • Lipidomics and Metabolomics for Rare Disease 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 Disorders led by the University of Manchester
  • The Renal Ciliopathies National Network (RCNN) led by Newcastle University
  • Cardiovascular Rare Disease led by Imperial College London
  • Establishing a National Platform for the Development of Nucleic Acid Therapy for Rare Disease led by University College London

The platform will provide a point of entry for industry and international partners. It will aim to attract investment into UK research. The Hub will proactively engage industry partners.

The platform 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.

Professor John Iredale, MRC Executive Chair, said:

“The UK has great strengths in rare disease research. However, the rarity of these diseases means it can often be difficult to bring the right people, technologies and tools together. 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.”

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