Rare Diseases Translational Research Collaboration (TRC)

More than 5,000 rare diseases, or diseases that affect fewer than 5 in 10,000 of the population, have been identified.  Although individually these diseases are rare, together they affect 7 percent of the UK population, they have a high impact of people’s lives and collectively form a large part of the work of the NHS.  Research into rare diseases is important because of the overall numbers of people affected.  It is also important because many common clinical syndromes are now believed to comprise subsets of rare diseases.  Research into rare diseases therefore also advances understanding of more common disease mechanisms, leading to potential new treatments.  Research into rare diseases can contribute to improved targeted and personalised approaches to healthcare, which has the potential to improve efficacy and safety of treatments and to reduce costs. 

The UK is at the cutting edge of research in rare diseases internationally. Our vision builds on the international position: that ‘deep’ phenotyping, the detailed analysis of physical characteristics, information combined with data on genomic abnormalities will increase research opportunities, enable faster diagnosis and support improved management and treatment of rare diseases. 

Our Rare Diseases Translational Research Collaboration provides world-class NHS research infrastructure to support fundamental discoveries and translational research on rare diseases.  At its core, this TRC is formed from our Biomedical Research Centres (BRCs), Biomedical Research Units (BRUs) and Clinical Research Facilities (CRFs), all with world-leading research expertise into rare diseases, facilities and capacity.

We are providing dedicated funding of £5 million per annum for the Rare Diseases TRC, for four years from 2013 in the first instance, for additional NHS research infrastructure focused on ‘deep’ phenotyping, and for research training to develop capacity in rare disease translational research.

The aims of the NIHR Rare Diseases TRC are to:

  • Develop further the NHS research infrastructure to support patient-centred research into rare diseases
  • Increase the volume of ‘deep’ phenotyping data and combine this with data on genetic abnormalities to provide greater understanding of the mechanisms underlying rare diseases and support translational research - and thereby create insights into which interventions, new or existing, are likely to be effective in preventing or treating these or other diseases
  • Facilitate tangible, rapid and efficient collaboration between NIHR-funded research infrastructure, clinical researchers, NHS organisations, other research funders and life science companies.

Further information

The NIHR Rare Diseases Translational Research Collaboration
NIHR Cambridge Biomedical Research Centre
Barton House, Level 5, Box 406
Cambridge Biomedical Campus
Hills Road

For life science industry enquiries contact:

The NIHR Office for Clinical Research Infrastructure (NOCRI) which provides streamlined and coordinated access to the Rare Diseases TRC for life science industry partners.

NIHR Office for Clinical Research Infrastructure (NOCRI)
tel: +44 207 972 2102
e-mail: nocri@nihr.ac.uk
twitter: @NIHR_NOCRI