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Dr Nathalie Kingston

Director, NIHR BioResource

Participant screening for complex research studies can be lengthy and costly, especially in rare diseases in which there are smaller patient groups geographically dispersed.

Established in 2007 at the University of Cambridge, the National Institute for Health and Care Research (NIHR) BioResource brings people and health research together, recruiting over 250,000 recallable volunteers with and without health conditions who have consented to participate in research studies to investigate the links between genes, the environment, health and disease.Notably, it has recruited over 20,000 volunteers across more than 50 rare disease areas.

Key contributions to rare disease

By screening participants for genes and/or phenotypes of interest, research that would have otherwise proven too costly or time-consuming is made possible.

Even more challenging is health research on rare disease in children. Most health problems start in the first two decades of life, but despite this, research is overwhelmingly focused on adults. To address this challenge, the BioResource has launched the world-first national children’s health research programme called the DNA, Children + Young People’s Health Resource. With support from children and their guardians across the UK, D-CYPHR will change this, helping researchers understand how DNA affects health and development in childhood, and ultimately finding clues and new treatments for major health conditions and rare diseases.

Streamlined research and logistics

The screening process to identify suitable individuals for research studies when complex genetic and phenotypic criteria are involved can be lengthy and costly, even more so in rare diseases with small, dispersed sample sizes. BioResource coordinates the samples, data and analysis that drive growing knowledge to take research from the bench to the bedside — all while collaborating with more than 100 NHS Trusts.

Specifically, it supports researchers from industry and academia with: participant recall by genotype or phenotype; provision of genetic and/or clinical data; stored DNA samples (blood/saliva), plasma and serum; and recruitment of volunteers for research studies and early-phase clinical trials.

Collaborative rare disease community

This is all made possible by its dedicated community of health research volunteers. Those living with rare diseases and researchers are all too aware that this critical research area may be overlooked as it benefits a relatively smaller group of patients and because information about such diseases is less widely known.

Nevertheless, more research is needed and, indeed, ‘Pioneering Research’ is an underpinning theme of the UK Rare Diseases Framework. The NIHR BioResource’s infrastructure and partnerships with the NHS and industry leaders present a unique opportunity for patients to be readily and easily involved in research. It has been developed by researchers, for researchers, all while keeping volunteers at the centre.

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