National Institute for Health Research BioResource - Rare Diseases

Research summary

The NIHR BioResource Rare Diseases (NIHRBRRD) aims to recruit participants with rare diseases and their relatives, to establish a comprehensive repository of consented participants. The participants are being recruited based on their rare disease being the focus of one of the NIHR priority themes, namely: Infection & Immunity, Neuroscience, Rare Diseases (including Rare Cancers) and Cardiovascular Disease. The NIHR BioResource Rare Diseases will isolate, analyse, collect and store DNA, plasma, sera samples on participants with rare diseases and their relatives. The aims are a) to use Next Generation Sequencing Techniques (NGST) which could include the sequencing of part, or all of the genome with the aim to determine the genetic basis of inherited rare diseases, including rare cancers for which the causative locus has hitherto not been identified, but which have potential wider relevance for the common diseases that are the focus of Biomedical Research Centres/Units (BRC/BRU)funded translational and experimental medicine research, and b) to advance discovery of genetic diagnoses for inherited and acquired genetic disorders, where the genotype causing phenotype is known, by developing next generation sequence technology based diagnostic tests covering NHS diagnostically-important genes.

Principal Investigator

Prof Hugh Watkins

Contact us

Email: ERGO@ouh.nhs.uk

IRAS number

131443