The NIHR BioResource for Translational Research in Common and Rare Diseases (NIHR BioResource) is a national resource of patients and members of the general population who have volunteered to be recalled for research based on their genotype and phenotype.
The NIHR BioResource has been established through a partnership with NHS Blood and Transplant, and builds on the expertise of the NIHR’s Biomedical Research Centres and NIHR Clinical Research Facilities.
The NIHR BioResource provides researchers with unprecedented access to highly characterised patients with common and rare diseases, as well as volunteers from the general population. Patients and members of the public volunteer to provide a DNA sample and information about their health, lifestyle and family history. Following genomic and phenotypic characterisation, specific individuals can be recalled, on a national basis, to participate in both academic and industry-led early translational (experimental medicine) research studies.
This research infrastructure will continue to support in-depth phenotyping, and facilitate its linkage to genomic data, to provide greater understanding of the mechanisms underlying rare and common diseases, and to support the development of new treatments and diagnostics.
Over 100,000 people have already been recruited to the NIHR BioResource, and up to 50,000 new participants will be recruited each year. The NIHR BioResource is increasing the number of study participants available both through building cohorts in selected disease areas, such as inflammatory bowel disease, and up to 100 rare diseases. This builds on NIHR’s previous investment in the NIHR BioResource, NIHR BioResource – rare diseases and the NIHR Rare Diseases Translational Research Collaboration (RD-TRC), integrating these three initiatives into a single resource.
The NIHR BioResource provides a unique opportunity for both academic and industry researchers to study the genetic and phenotypic characteristics of human disease and to carry out early translational (experimental medicine) research studies with highly characterised and stratified cohorts of individuals.
To support identification and central recall, all volunteers will have signed a national consent that grants permission for their personal, genomic and phenotype data to be deposited in the national database. Genomic and phenotypic characterisation provided by the NIHR BioResource includes:
- High density array data (Affymetrix UK Biobank Axiom® Array): available for 50,000 participants. High density genotyping array will be carried out on all participants, and whole genome sequencing is available for selected cohorts.
- Metabolomic profiling (Metabolon®): available for 23,000 participants.
- Future molecular and clinical phenotyping platforms offered by the NIHR BioResource may include proteomics, lipidomics, glycomics and imaging such as whole body MRI. In addition, a core human induced pluripotent stem cell (hiPSC) facility provides wild-type and genome edited pluripotent stem cells to support experimental medicine studies.
Sample processing, archiving and retrieval is provided at scale by the NIHR National Biosample Centre.
The genetic and phenotypic characterisation of participants is driving an exponential growth in data, which is held in a single database hosted on an N3 facing server. The data is analysed and managed in partnership with the European Molecular Biology Laboratory - European Bioinformatics Institute and the MRC Biostatistics Unit.
Research charities, industry and researchers wishing to collaborate with the NIHR BioResource should email email@example.com, asking for an application form.
The NIHR BioResource supports studies looking at how genes and other factors influence disease. By gaining more information on the genes involved in a disease, treatments can be identified to reduce the effect of the disease or even cure it.
On joining the NIHR BioResource, volunteers donate a sample of blood that is used to determine their genetic makeup (genotype). They’re also asked to answer a short questionnaire about their health and lifestyle, and further relevant information may be obtained from medical notes and other health-related records (phenotype).
The NIHR BioResource uses information on people’s genotype, phenotype or both to match them to research studies that are looking for volunteers.
The NIHR BioResource is recruiting volunteers with and without health conditions. By joining, you will be helping researchers investigate and understand why some people have a disease. If you would like to join the NIHR BioResource, please email firstname.lastname@example.org.