The ethos of Health Data Research UK, which values transparency, optimism, respect, courage and humility, and brings together universities, NHS organisations, industry partners, patient groups and research institutes across the UK, provides the perfect environment for team building.
Against that setting, and with their support, we brought together a remarkable team under the umbrella of the NIHR BioResource. Five NHS Trusts (Cambridge University Hospitals, Leeds Teaching Hospitals, Newcastle Hospitals, Royal Liverpool and Broadgreen University Hospitals and Royal Papworth Hospital), Cambridge University Health Partners and the Eastern Academic Health Science Network, Privitar, AIMES,and Microsoft, the National Disease Registries at Public Health England, Microsoft and the Wellcome Sanger Institute all shared their expertise.
In just ten months, the Rare Diseases Sprint Exemplar Innovation Project developed a secure cloud research platform to transform the understanding of rare genetic disorders and help to drive improvements in diagnosis, as well as acting as a proof of principle for use in other diseases.
The success was down to the willingness of world leading private and public sector organisations to work with patients to improve health. 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 identify causes and find treatments is proving to be life changing.
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.
Sprint Exemplar: Cloud-based integration of patient data to aid rare disease research
27 February 2020
In 2019, eleven projects helped to develop proof of concepts for technology, methodology and research services that informed the design of the Digital Innovation Hub Programme. The projects also...
Cloud-based integration of phenotype and genotype data for rare disease research
Rare diseases collectively affect one in 17 people, equating to around 3.5 million individuals in the UK. At least 80% of rare diseases have a genetic component, but for many rare diseases this...