Rare diseases affect one in 17 people in the UK – about 3.5 million individuals – and can be extremely difficult to diagnose, often having an unidentified genetic cause. Consequently, rare diseases are not being diagnosed, treated or supported effectively.

Recent advances in clinical imaging, pathology, and genomic technologies have led to significant progress in understanding disease – particularly rare diseases. However, the power of these technologies cannot be fully realised until the immense volume of data generated can be integrated with NHS patient data, then analysed by researchers in a secure environment.
A project led by Cambridge University Hospitals NHS Foundation Trust has created a ‘proof of concept’ research resource with the potential to transform understanding of rare genetic disorders, drive improvements in diagnosis and management, and provide proof of principle for use in other diseases.

The project team has worked with patients enrolled in the NIHR BioResource; a national resource of patients and healthy volunteers who have consented that information retrieved from their health records can be used for medical research.

Data relating to three cohorts patients with a rare disease; bleeding and platelet disorders, primary immunodeficiency disorders, and pulmonary arterial hyper-tension, has been de-identified, and linked for an approved study in a secure cloud-based digital research environment where de-identified phenotype and genotype data can be integrated and made available for approved research studies.

This model is now being developed and scaled to deliver Gut Reaction, the Health Data Research Hub for Inflammatory Bowel Disease (IBD); a collaboration between NHS, academic organisations, patients, charities, and industry to provide and curate data for patients with Crohn’s disease and ulcerative colitis. Together they will be driving the utility of expert health data science involving more than 30,000 patients across 100 hospitals UK-wide, with even more detailed diagnostic imaging, pathology and prescribing data from 7,500 patients across ten of those hospitals initially.

The long-term goal is to use this model to provide a world-class, multi-dimensional integrated data resource for research and innovation that is based on open data standards, protects the privacy of participants, and can be readily scaled and replicated for other disease areas.

Partners in the Rare Diseases Sprint Project were: Cambridge University Hospitals, NIHR BioResource, Cambridge University Health Partners, Eastern Academic Health Science Network, AIMES, Privitar, Public Health England National Diseases Registries, Microsoft Research Lab – Cambridge, the Wellcome Sanger Institute.

For the Gut Reaction, Health Data Research Hub for Inflammatory Bowel Disease (IBD) programme, the above team are joined by Crohn’s & Colitis UK and the UK IBD Registry.