There is an ongoing opportunity for funding for sequencing capacity in Rare Diseases, through the NIHR BioResource for Rare Diseases.
The schedule for meetings and deadlines for application for 2014 are:
Schedule for the meetings (@ 14:00):
- 25/03/14 (deadline: noon 12 days before, 13th March)
- 27/05/14 (deadline: noon 12 days before, 15th May)
- 29/07/14 (deadline: noon 12 days before, 17th July)
- 30/09/14 (deadline:noon 12 days before, 18th September)
- 25/11/14 (deadline: noon 12 days before, 13th November)
Click here for details of the requirements, application process and conditions for this funding.
The NIHR BioResource for Rare Diseases is an integral part of the NIHR BioResource and has been awarded NIHR 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:
(a) 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,
(b) 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
(c) to characterise induced pluripotent stem cell (iPSC) clones, particularly those established from patients with Rare Diseases for which novel causative genes have been discovered.
For the purpose of this document Rare Diseases are defined as conditions with an incidence of less than 5 in 10,000.
How to get access to centrally funded NGST capacity
Requests for access to centrally funded NIHR BioResource NGST capacity for the above three categories of activities can be made by any group of BRC/BRU researchers who have agreed to work across at least three BRCs/BRUs participating in the NIHR BioResource. The NIHR BioResource SIC can offer advice to ensure the maximum research, clinical and BRC/BRU benefits. Sequencing of samples funded by the NIHR BioResource can ONLY be performed through the CAmbridge Translation GenOmics laboratory (CATGO, http://www.catgo.org.uk/). The application can be submitted to the SIC by submitting the completed “NGST-project” form by email to email@example.com (the form can be downloaded from http://www.catgo.org.uk/).
Requests for access to NIHR BioResource funded NGST capacity will be reviewed by the SIC. Proposals for NGST capacity should be ambitious, central to the experimental medicine strategy of the BRCs/BRUs, and are expected to result in publications in high impact journals. Proposals can be based on existing national, and under certain circumstances international collections of DNA samples or on new collections still to be established or to be expanded via the NIHR BioResource for Rare Diseases. If a proposed NGST project falls within the aims and objectives of the NIHR BioResource for Rare Diseases (as endorsed by the NIHR BioResource Steering Committee) then the enrolment office of the NIHR BioResource for Rare Diseases (BRODO) will provide support in establishing new collections or expanding existing ones. DNA samples to be sequenced with NIHR-BioResource funds should have been consented where possible to the NIHR BioResource Stage 1 consent for Rare Diseases, but exemption may be considered on a study-by-study.
The group meets every month or every other month depending on requirements.
For further information, please see the relevant websites:
Or speak to Nick Wood firstname.lastname@example.org who is the member of the Committee for UCL and can tell you when the next meeting is scheduled, or Kirstin Goldring email@example.com UCL BioResource Coordinator.