Researchers into rare diseases can apply to the NIHR BioResource for Rare Diseases for next generation sequencing (NGST) of their DNA samples.
Applications can be made by any group of BRC or BRU researchers who have agreed to work across at least three BRCs or BRUs participating in the NIHR BioResource.
The application of NGST will be used for the following:
- 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
- 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.
If you are a clinician-scientist interested in applying for sequencing capacity through the NIHR BioResource in Rare Diseases read more about the application process at the Cambridge Translational Genomics website.
The committee that approves requests for NGST capacity through the Rare Diseases BioResource meets regularly to approve applications. The next meeting being on the 26 November, with a deadline for applications of 12 noon on Friday 15 November.
