Investment in rare diseases research to improve diagnosis and treatment

A new platform has been announced, bringing together UK strengths in rare diseases research to improve diagnosis and treatment through better understanding of the conditions, with Manchester researchers playing a central role.

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).

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

It will be made up of a central coordination and administrative hub and 11 specialist nodes, each involving several universities and organisations working together across the UK. Three of the 11 specialist nodes are led by researchers from the NIHR Manchester Biomedical Research Centre (BRC).

Specialist node: REOLUT

Professor Bill Newman, Co-Lead for the Rare Conditions research theme at the NIHR Manchester BRC and Professor of Translational Genomic Medicine at The University of Manchester, has been awarded a grant of £1.3 million from the Medical Research Council, as part of this investment.

This will fund research into a Rare Early Onset Lower Urinary Tract (REOLUT) study, led by The University of Manchester and part of the BRC’s Rare Conditions theme, which aims to find the causes, understand the biological basis, and develop the treatments for patients affected by bladder disorders.

Prof Newman, who is also a Consultant in Genomic Medicine at Saint Mary’s Hospital which is part of Manchester University NHS Foundation Trust (MFT) said; “A rare disease is one that affects fewer than one in 2,000 people. There are thousands of these conditions, affecting 3.5 million people in the UK.

“Our node with colleagues in Manchester, London and Cambridge linking with doctors and patients across the UK will help to advance understanding of severe bladder problems in children and develop new treatments for these devastating conditions.”

Specialist node: EpiGenRare

Professor Siddharth Banka, Co-Lead for the Rare Conditions research theme at the NIHR Manchester (BRC) and Professor of Genomic Medicine and Rare Diseases at The University of Manchester has also received a grant for his work linked to epigenomics and epigenetics, which are studies on how the activity of genes is controlled.

Prof Banka will co-lead the EpiGenRare node that will establish a multidisciplinary network of clinicians, researchers and patient support groups to coordinate cutting-edge research to understand, diagnose and treat rare disorders. Professor Sue Kimber, Professor of Stem Cells and Development at The University of Manchester will also play a key role in this node.

Prof Banka, who is a Consultant Clinical Geneticist at Saint Mary’s Hospital which is part of MFT, said: “This is important as fewer than 100 rare epigenetic diseases are known, but collectively they represent many patients with rare diseases.

“These diseases remain challenging to discover, diagnose, understand, and treat. Our multi-disciplinary node team aims to build on existing expertise that will enable us to tackle the challenges in the area which is fantastic news for patients.”

Specialist node: ELSI

Dr Ramona Moldovan, Capacity Building Lead for the Rare Conditions research theme at the NIHR Manchester BRC, has been awarded a grant of £1.4 million from the Medical Research Council, as part of this investment.

Dr Moldovan, from The University of Manchester, and a Specialist Clinical Psychologist and Principal Genetic Counsellor at Saint Mary’s Hospital which is part of MFT, said: “Genomic technologies hold great promise to bring benefits for individuals and families living with rare conditions in terms of diagnosis and treatment.

“The Ethical, Legal and Social Issues (ELSI) require close attention because the associated predictive, familial and uncertain information and implications are not always obvious.

“Working with colleagues in Manchester, Oxford and Cardiff, our node will work with patients, families, communities, clinicians, academics and industry to accelerate research in ELSI cross-cutting issues ranging from the impact of rare conditions to the design of clinical trials for treatments of rare conditions.”

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.”

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.”

The 11 specialist nodes 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.

The platform will provide a point of entry for industry and international partners and aims 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.