The NIHR BioResource – Rare Diseases is an integral part of the NIHR BioResource and has been awarded funding for the clinical application of Next Generation Sequencing Techniques (NGST).

The application of NGST will be mainly used for the following categories of activities:

  1. 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.
  2. To reduce the delay in ascertaining a genetic diagnosis for inherited and acquired genetic disorders (including rare cancers), where the genotype causing phenotype is known, by developing NGST-based diagnostic tests covering NHS diagnostically-important genes; such projects can include translational projects on e.g. a subset of diagnostic genes.