Call for Rare Diseases projects
The NIHR BioResource for Translational Research is a national resource of more than 145,000 participants who are interested in supporting research. The NIHR BioResource includes over 13,000 rare disease patients and we aim to have 20,000 patients by 2022 (300,000 participants in total). Participants can be anyone with or without a health condition, who are willing to participate in research studies investigating the links between genes, the environment, health and disease; this call focuses on Rare Diseases.
We aim to help researchers to identify and study rare genetic variants, and enable a faster route to access a cohort of participants based on genotype and/or phenotype.
Southampton joined the NIHR BioResource as an enrolling centre with the 2017-22 BRC and CRF funding. Prof Karen Temple is the Southampton Rare Diseases lead for NIHR BioResource, and Karen sits on the national steering committee and rare diseases group. As well as enrolment opportunities, we are also keen for Southampton investigators to lead and/or join national projects making use of the resource.
Karen Temple and Justin Davies, as an exemplar, are leading on recruiting a cohort of patients with rare imprinting disorders. They recruit patients from their imprinting clinic with the support of the NIHR nursing team. Centres from around the UK can also recruit patients within this theme. As this cohort grows it will enable any researcher to apply for research funding in the knowledge that they will be able to re-contact these rare disease patients which will make their future research easier to perform (and more likely to be funded as patient access in rare disease is a big issue). While the Southampton team are recruiting patients for research in general, it also helps their own research as this is a particular area of interest.
We would like to invite researchers to submit proposals to have their rare disease of interest included in the NIHR BioResource, please see attached documents for further details, providing the information listed in Parts 1 and 2 of the “Call for projects” document to: David.Stockley@uhs.nhs.uk by Monday 4th November 2019. An example of a previously successful application has also been included in the attachments.