Rare Disease Research Platform announced by NIHR and MRC

The National Institute for Health and Care Research (NIHR) and the Medical Research Council (MRC) have announced an investment of £14m to establish the UK Rare Disease Research Platform.

The Platform, aimed at overcoming some of the most common challenges in the diagnosis, management and treatment of rare diseases, will bring together research teams across the UK with patients, stakeholders and technologies. It will be made up of a central coordinating hub and 11 specialist nodes based at universities across the UK. These are:

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

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.

Professor John Iredale, MRC executive chair, said:

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

“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.”