£14 Million UK Rare Disease Research Platform Established
The new platform will bring together UK strengths in rare diseases research to improve diagnosis and treatment through better understanding of the disease.
The Medical Research Council (MRC) and National Institute for Health and Care Research (NIHR) are together investing a total of £14 million to establish the UK Rare Disease Research Platform. The platform aims 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.
A rare disease is one that affects fewer than one in 2,000 people. However, there are thousands of these types of conditions, with around one in 17 people in the UK being affected at some point in their lifetime.
The platform is therefore designed to 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 platform is made up of a central coordination and administrative hub, run by a consortium led by Newcastle University, with Newcastle NHS Trust and Genetic Alliance UK, and 11 specialist nodes based at universities across the UK. The 11 nodes each involve several universities and organisations working together across the UK, specifically:
- 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.
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.”
Further details of the platform are available at the UKRI website.
(This report was the subject of a ResearchConnect Newsflash.)