Eastern AHSN-convened team for rare disease research completes HDR UK Sprint Exemplar Project

A team convened by Eastern AHSN and led by Cambridge University Hospitals and the NIHR BioResource has completed a high-profile Health Data Research UK (HDRUK) Sprint Exemplar Innovation Project focused on rare diseases and genomics.

Mark Avery rare diseases sprint project Eastern AHSN

Rare diseases affect one in 17 people in the UK – about 3.5 million individuals – and can be extremely difficult to diagnose and treat because they often have an (as yet) unidentified genetic cause.

The rare diseases sprint was one of eleven proof of concept projects selected by HDRUK to help inform the development and design of its UK-wide Health Data Research Hub programme.

Working together, the HDRUK Rare Diseases Sprint Exemplar project team worked with five NHS hospitals and industry partners; AIMES, Privitar & Microsoft, to combine NHS health record data, phenotypic (including lifestyle) data and genomic data for 1,600 patients with rare diseases who consented for their health records to be accessed for research.  In December 2019, the integrated and de-identified dataset was made available for analysis in a secure cloud research environment as part of an approved research study at the University of Cambridge.

Collecting the award on behalf of the team, Mark Avery, Director of Health Informatics, Eastern AHSN said, “We are incredibly proud of what we have achieved through our NHS, academia and industry collaboration over the last 10 months.”

The team are subsequently building upon this proof of concept, this time at scale for patients with Inflammatory Bowel Disease (IBD).  ‘Gut Reaction’, the Health Data Research Hub for IBD is now operational as one of seven national hubs awarded funded by HDRUK and UK Research & Innovation.  The Health Data Research hubs are centres of excellence with expertise, tools, knowledge and ways of working to maximise the insights and innovations developed from health data.

“Recent advances in clinical imaging, pathology, and genomic technologies have led to significant progress in understanding of diseases,” said Mark, “but the power of these technologies cannot be fully realised until the immense volume of data generated can be integrated, and then analysed by researchers in a secure data research environment that protects the privacy of individuals.”

Read more on Gut Reaction here.

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