This project is funded by the UK Research and Innovation’s Industrial Strategy Challenge Fund (ISCF).



Rare diseases affect a large number of people (one in 17 will be affected in their lifetime) and 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.

Our project 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.  We 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.

The challenge

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 has not yet been defined and the disease mechanism remains unknown.  Consequently, rare diseases are still not being diagnosed, treated or supported effectively.  The average time to diagnosis of a rare disease is six years, with many patients undergoing unnecessary investigations during this time, adding to the social, health and economic burden.  Elucidating the mechanisms that underpin rare diseases can provide important insights into therapeutic targets for common diseases.

The solution

Recent advances in technologies for in-depth phenotyping and genomic analysis have led to remarkable progress in understanding rare diseases.  Making this huge potential a reality for patients requires the integration of these very large volumes of data with routinely collected NHS data to understand how genetic variations affect clinical presentation and efficacy of treatment.  Working with industry partners, we will demonstrate secure exchange and integration of health data.  These records can then be analysed anonymously or pseudonymised to allow re-identification and recall of individuals for follow-up.

Impact and outcomes

Over the last 10 years, rare disease patients during the diagnosis period have cost NHS England in excess of £3.4 billion.  Whilst undiagnosed, the cost per patient is on average, more than twice that of other patients – an average difference of £7,000 more per year.[1]

Rare diseases are a national priority because they collectively affect 7% of the population, are often chronic, and have a high impact on patients and the public (CMO’s annual report, 2016). The life sciences industry has become particularly interested in rare disease research because it has informed precision healthcare, increased therapeutic efficacy and safety, and reduced costs, and can yield insight into common disease mechanisms.


NHS Collaboration:

  •  NIHR BioResource
  • Cambridge University Hospitals NHS Foundation Trust
  • Newcastle Hospitals NHS Foundation Trust
  • Royal Papworth NHS Foundation Trust
  • The Leeds Teaching Hospitals NHS Trust
  • The Royal Liverpool and Broadgreen University Hospitals NHS Trust


  • AIMES: an ISO27001:2013 accredited, NHS IG Toolkit-compliant Cloud Service Provider who specialise in hosting patient and clinical data
  • Cambridge University Health Partners
  • Eastern Academic Health Science Network
  • Privitar: a leading Privacy software engineering recently been selected by NHS Digital to deliver a new software solution for the de-identification of patient information, which will help to improve the way that data is used across the NHS and social care.

In addition to the partners listed above, we will also be working with Public Health England National Diseases Registries, Microsoft Research Lab – Cambridge, and the Wellcome Sanger Institute.


Professor John R Bradley, Director NIHR Cambridge Biomedical Research Centre; Co-Chair of NIHR BioResource.


Mark Avery, Director of Health Informatics – Cambridge University Health Partners and Eastern AHSN.