PWE-044 The IBD bioresource: progressing from genetics to function and clinical translation in CD & UC

Autor: Catherine Thorbinson, Laetitia C. Pele, Rasha Shawky, Rachel Simpkins, Deepthy Francis, Sophie Lewis, Miles Parkes
Rok vydání: 2018
Předmět:
Zdroj: IBD.
Popis: Introduction He Inflammatory Bowel Disease (IBD) BioResource was established by the UK IBD Genetics Consortium and the NIHR BioResource in 2016 to expedite functional characterisation of IBD-associated variants and clinical translation of recent genetics advances. It aims to recruit 25,000 patients, across hospitals sites nationwide, who can then be further invited for future research studies based on genotype and/or phenotype. Methods The Main cohort comprises individuals with established Crohn’s Disease (CD) and Ulcerative Colitis (UC). Both clinical and self-reported phenotype data are collected, alongside plasma, serum and DNA samples for Whole Genome Sequencing. The Inception cohort aims to recruit a sub-set of 1,000 individuals newly diagnosed with IBD that will provide more detailed sampling, unconfounded by drug treatment or effects of surgery and includes stool, biopsy tissue and whole blood for RNA. This cohort offers a unique resource to undertake omics studies and facilitate research into determinants, predictors and biomarkers of IBD disease course and treatment response. The IBD BioResource panel can be accessed by any investigators with ethically approved proposals and may involve a range of possible options, such as access to data/samples or recall of genotype-selected participants to donate further samples or trial novel therapies. Results Main cohort Recruitment is still going strong and we now have over 20,000 patients enrolled into our IBD BioResource panel. Inception cohort This has now been up and running fully since March 2018. We have >40 hospital sites trained to identify and recruit to this cohort. Recruitment is going well too, with 10% of our target reached so far. Translation One measure of success for IBD BioResource is the use of its panel for the facilitation of IBD research. To date 12 ‘Stage 2 studies’ have applied to utilise the IBD BioResource. Of the 12 applications, ∼40% requested access to anonymised samples and data while the remaining ∼60% required involvement of participants (recall to sites/completion of online questionnaires). Field of studies ranged from disease mechanistic, immunology through to genetic, environmental and microbial interactions. We aim to give further update about the current state of the project, which will be over 3 years. This will include key achievements and milestones reached, the ‘highs and lows’ of setting up large cohort of patients and highlights on selected stage 2 studies. Conclusion The IBD BioResource and its network are on course to fulfil their goals.
Databáze: OpenAIRE