New £14 million investment targets rare diseases

New platform bringing together UK strengths in rare diseases research to improve diagnosis and treatment through better understanding of the disease.

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 eleven specialist nodes based at universities across the UK.

"We will tackle challenges beyond the reach of individual researchers and conventional collaborative networks, but tractable to a national platform with the trust and support of this broad-based research community" Professor James Ware

Imperial is leading on the Cardiovascular Rare Disease node with James Ware, Professor of Cardiovascular and Genomic Medicine at the National Heart and Lung Institute, Imperial and MRC Investigator at the MRC London Institute of Medical Sciences. The node leadership team, who will be leading specific projects for the node are Dr Tom Lumbers (UCL), Dr Kate Thomson (Oxford University) and Professor Cathie Sudlow (BHF Data Science Centre, HDRUK).

The aim of the UK Rare Disease Research 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.

The Cardiovascular Rare Disease Node will tackle fundamental challenges in our understanding of rare inherited cardiovascular conditions, which include the primary causes of sudden death in young adults and the leading causes of heart transplantation. Their strategy is to build on the NHS’s clinical genetic testing pathways to give all those in the UK with a rare cardiovascular disease an opportunity to participate in research by uniting data about their heart and their genes for use in research. Professor Ware and his team are working with the NHS Genomic Medicine Service, NHS England, Genomics England, and the British Heart Foundation Data Science Centre, alongside researchers and patient organisations (in particularly Cardiomyopathy UK) to bring together data that has been previously siloed, and make it available to the clinical and research communities via a single secure environment. They will also build a register of those willing to participate in future research, and connect them with research studies including of new therapies.

Rare diseases bring common challenges

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 “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".

The eleven nodes each involve several universities and organisations working together across the UK including King's College London, UCL Swansea University and The University of Nottingham.

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.

Huge Heart Health challenge

Speaking on the work his node will be focused on Professor James Ware comments “Inherited Cardiovascular Conditions (ICCs) represent a huge health challenge. Although individually uncommon, together they affect more than 300,000 people in the UK, and include the commonest causes of sudden death in young adults and the leading causes of heart transplantation. I am delighted that the NIHR and MRC have recognised this and decided to include a dedicated Cardiovascular node in this platform as part of the national rare disease research strategy".

He continues "Many of the most pressing challenges we face require large scale studies that can only be achieved with a national approach, given the rarity of these conditions. The UK’s National Genomic Medicine Service provides potential for a fantastic research environment, and this new funding will enable us to realise that opportunity by giving every cardiovascular rare disease patient in the NHS an invitation to participate in research, and by linking up national data resources and connecting them in a secure environment for research. We will tackle challenges beyond the reach of individual researchers and conventional collaborative networks, but tractable to a national platform with the trust and support of this broad-based research community”.