One in 17 people have a rare disease. Rare diseases can be extremely difficult to diagnose, but they often have an unidentified genetic cause. Recent advances in clinical imaging, pathology, and genomic technologies have led to remarkable 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 data, then analysed by researchers in a secure environment that protects the privacy of individuals. Working across the NHS, academia and industry we will use existing tools to transfer data from NHS Trusts to a secure environment that interfaces with the NHS network and shares data with Public Health England. NHS information will then be combined with research data in a cloud-based platform. Initially, we will involve patients with rare diseases recruited to the NIHR BioResource; a national resource of volunteers who have already provided consent that information retrieved from their health records can be used for medical research. This will create a rich research resource with the potential to transform our understanding of rare genetic disorders, drive improvements in diagnosis and management, and provide proof of principle for use in other diseases.

"Crohn's Disease and Ulcerative Colitis are the main forms of IBD. They cause debilitating symptoms affecting 0.78% of the UK population (500,0001 people), and costing UK health budgets approximately £1.5 Billion2 each year. Treatment is with steroids, immunosuppressants and antibody therapies, but results are variable. Over 70% of patients with Crohn’s and 15% with colitis require major surgery3. There is an urgent need to better understand why patients respond differently to treatments in order to improve outcomes and reduce costs. Recent advances in clinical imaging, pathology, and genomic technologies have produced remarkable progress in understanding IBD. However, the power of these technologies cannot be clinically realised until these data can be combined and used in a meaningful way. Our DIH will integrate data from multiple sources and create a secure research resource that allows approved researchers to access data, whilst protecting the privacy of individuals. Patient and public involvement is key to our success. 25,000 IBD patients have already provided consent for their health records to be retrieved and used for medical research. Working together, we will transform our understanding of IBD, drive improvements in diagnosis and treatment, and deliver a data framework to reproduce in other disease areas."