Rare Diseases Translational Research Collaboration Invitation for industry-collaborative projects Contents Rare Diseases Translational Research Collaboration ..................................................................... 1 Invitation for industry-collaborative projects .................................................................................... 1 Overarching aims of the NIHR RD TRC ...................................................................................... 2 Invitation for industry-collaborative projects ................................................................................. 2 Project eligibility ............................................................................................................................ 2 Criteria for support of in-depth phenotyping of a NIHR RD-TRC cohort ..................................... 3 Funding limits and duration .......................................................................................................... 3 Application and assessment process........................................................................................... 3 Overarching aims of the NIHR RD TRC Over 7% of the UK population are affected by one of >5000 different rare diseases, with ~80% being single gene disorders. However, each specific disease is rare, and affects <5 in 10,000 of the population. The overall goal of the NIHR RD-TRC is to support in-depth phenotyping of patients with rare diseases and to develop new treatments and speed up diagnosis. Whilst the focus of the NIHR RD-TRC is on in-depth phenotyping, a number of resources are available for acquiring genomic data, including the infrastructure and sequencing capacity provided by the NIHR BioResource – Rare Diseases and Genomics England Ltd. The NIHR RD-TRC will support in-depth phenotyping research within a number of themes. Each theme is led by an investigator within a NIHR Biomedical Research Centre (BRC) / Biomedical Research Unit (BRU) / Clinical Research Facility (CRF): Prof. Stan Kaye Prof. Hugh Watkins Prof. Nicholas Wood Eye Disease: Professor Graeme Black Dr. Andrew Webster Prof. David Jones Gastrointestinal: Prof. Adrian Thrasher Immunological Disorders: Prof. Stephen O’Rahilly Metabolism: Musculoskeletal Disorders: Prof. Bryan Paul Wordsworth Prof. Michael Hanna Neuromuscular Disorders: Non-Malignant Haematology: Prof. Irene Roberts Prof. Timothy Barrett Paediatric (Cross-Cutting): Cancer: Cardiovascular: Dementia & Neurodegen: Renal Disease: Respiratory Disease: Prof. Fiona Karet Prof. Eric Alton Skin: Prof. John McGrath NIHR Royal Marsden BRC NIHR Oxford BRC NIHR UCLH BRC NIHR Moorfields BRC NIHR Newcastle BRC NIHR GOSH BRC NIHR Cambridge BRC NIHR Oxford MSK BRU NIHR UCLH BRC NIHR Oxford BRC NIHR/Wellcome Trust Birmingham CRF NIHR Cambridge BRC NIHR Royal Brompton Respiratory BRU NIHR GSST BRC Within each theme a number of in depth phenotyping projects are currently funded which are led by Investigators working in NIHR Biomedical Research Centres, Biomedical Research Units or Clinical Research Facilities (BRC/BRU/CRFs). For an up to date list of funded projects and project lead investigators please see: http://rd.trc.nihr.ac.uk/themes-2/ By increasing the volume of in-depth phenotyping data and correlating this with the relevant genomic data the NIHR RD-TRC aims to provide greater understanding of rare diseases and of the mechanisms and support translational research into rare diseases. This will allow insight into which interventions, new or existing, are likely to be effective in preventing or treating these or other diseases. By working in collaboration with industry partners, the NIHR RD TRC projects aims to increase in-depth understanding of rare diseases in alignment with the development of new therapies and diagnostics. Invitation for industry-collaborative projects The NIHR RD-TRC recognises the importance of working with industry in order to successfully deliver health research and progress the development of new treatments for rare diseases. The invitation for industry-collaborative projects will aim to establish collaborative projects in rare diseases between investigators working within NIHR BRC, BRU and CRF’s and industry partners. Project eligibility The NIHR RD-TRC funding available through this invitation is for in-depth phenotyping only. Where a proposal involves other research methodology (for example, a clinical trial or acquisition of genomic data) only the phenotyping aspects of a study will be funded by the NIHR RD-TRC. Other costs must be met by the industry partner or another appropriate funding source. Some support to deliver the study may be available through the NIHR RD-TRC Theme Coordinators. Applications that build on and extend projects that are currently funded by the NIHR RD-TRC will also be considered. Criteria for support of in-depth phenotyping of a NIHR RD-TRC cohort Funding will be awarded based on the following criteria: A named lead investigator who has a track record in rare disease translational research and is within a NIHR BRC/BRU/CRF. A named industry partner who will be in a position to support and provide additional resource for the study. Application endorsed by a NIHR BRC/ BRU or CRF Director. Any funding will be awarded to the NIHR BRC/BRU/CRF host NHS Trust. A clearly articulated, important translational research question with the potential to have impact within 4 years. Evidence from prior knowledge that the research has the potential to advance diagnosis or therapy of rare diseases. Evidence of appropriate existing local clinical and research infrastructure. Commitment from the lead investigator to develop and use common documentation for consent and information, and to information exchange. To link with, or use, OpenClinica for data capture and add to the NIHR RD-TRC OpenClinica data set. Funding limits and duration NIHR contribution will be determined based on the quality of the application value for money as well as added value. Maximum NIHR RD-TRC funding of £200,000 is available over two years. Projects must be completed by 31 March 2017. Application and assessment process If the proposed study aims to make a significant contribution to the objectives of the NIHR RD-TRC and you have an identified research and/or collaborative opportunity, the NIHR RD-TRC would encourage your submission. The NIHR RD-TRC invitation for industry collaborative projects uses a two-stage application process. It is open for submissions of Expressions of Interest (EoIs) at any time until further notice. Full applications are expected to be submitted within 4 months of an invitation being issued. Expressions of interest from Investigators or Industry should be provided using the Expression of Interest form. EoIs will be reviewed by a sub-section of the NIRH RD-TRC Strategic Oversight Group (SOG) to determine whether they are within the scope of the scheme. Successful EoIs will be invited to submit a full proposal requesting additional detail related to the proposal and a detailed breakdown of the study costs and industry contribution, including resources provided ‘in kind’. Full applications will undergo peer review prior to review by the SOG. The NIHR RD-TRC will endeavour to review applications as quickly as possible. For EoIs we aim to provide a decision regarding eligibility for full application one week after submission. For full applications we expect to provide a decision one month following receipt of the full application. Submission: Completed EoI or applications forms should be submitted to the Operational Director, Dr. Marijcke Veltman, at mwmv2@medschl.cam.ac.uk Linking Industry with the NIHR Infrastructure If you require further information or would like an informal discussion regarding a proposed project in advance of submitting an expression of interest or full application please contact NIHR Office for Clinical Research Infrastructure (NOCRI). For assistance in sourcing a relevant NIHR investigator to explore the possibility of collaborating on a project, the industry partner should complete the EoI form stating that they require assistance to identify a partner. NOCRI will seek willing academic collaborators to work with the industry partner within 2 weeks of the application submission and will facilitate set up of an initial meeting. Following this, activities and the decision to collaborate in the application will be left between the two parties involved. nocri@nihr.ac.uk