Rare Diseases Project team wins national award

A project to help with the identification, diagnosis and treatment of the one in 17 people in the UK who have a rare disease has won the coveted Health Data Research UK (HDR UK) Team of the Year Award.

In just ten months, the Rare Diseases Sprint Exemplar Innovation Project has developed a secure cloud research platform to transform the understanding of rare genetic disorders and helping to drive improvements in diagnosis as well as acting as a proof of principle for use in other diseases.

The project led by Cambridge University Hospitals NHS Foundation Trust, was short listed alongside projects on COVID-19 and Early Career projects, has not just helped patients but is also helping save the NHS money. The cost of an undiagnosed rare disease patient is significant - whilst undiagnosed, the cost per patient is more than twice that of other patients, an average difference of £7,000 more per patient per year.

Professor John Bradley Director National Institute for Health Research’s (NIHR) Cambridge Biomedical Research Centre and Chief Investigator of NIHR BioResource said: “We are all very proud to have won the Health Data Research UK Team of the Year ahead of some amazing other projects. Our success over the last ten months has been down to the willingness of world leading private and public sector organisations to work together for the benefit of patients. We believe we have achieved what may be a world first - cloud integration of longitudinal healthcare data, research and lifestyle data, and genomics. We all know from experience how difficult it can be to diagnose rare diseases but by the use of technology and patient data – through the kind permission of those involved – the potential we are now realising to causes and find treatments is proving to be life changing.”

This project, which was funded by UK Research and Innovation (UKRI) as part of the government’s Industrial Strategy, is a collaboration between five NHS Foundation Trusts (Cambridge University Hospitals, Leeds Teaching Hospitals, Newcastle Hospitals, Royal Liverpool and Broadgreen University Hospitals and Royal Papworth Hospital), Cambridge University Health Partners and Eastern Academic Health Science Network, Privitar, and AIMES, the National Disease Registries at Public Health England, Microsoft and the Wellcome Sanger Institute and builds on the NIHR investment in the NIHR BioResource.

The project is now providing the basis for development of ‘Gut Reaction’, the Health Data Research Hub for Inflammatory Bowel Disease (IBD) and other research and development projects involving integration of data and new technologies including a high-profile Covid-19 study.

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