Causal analyses, statistical efficiency and phenotypic precision through study design: Genotype based sampling

Lead Research Organisation: University of Bristol

Abstract

Using recall frameworks in the design of informative experiments during an era of comprehensive genotypic data collection presents a new and step-changing opportunity. Whilst selection approaches based on physical characteristics can yield groups for targeted follow-up, investigations like this require the availability of study-specific stratum-defining data for all participants and once formed are subject to the limitations of conventional epidemiology. Recall by genotype (RBG) or genotype based sampling is an approach with the potential to maximize the utility of large population-based studies where the collection of genetic data has become routine, but where detailed biological measurement is impractical and random sampling is inefficient. In contrast to other designs, recall (of samples, data or participants) on the basis of genotypic variation has the potential to yield manageable groups for precise measurement in any collection with genetic data.

In this programme, RBG will be assessed methodologically and tested in a series of deliverable research projects, each with a specific scientific hypothesis, but also with the aim of exploring the implications of using genetic data in this way. This leader-track programme will produce a methodological toolkit for the undertaking of RBG experiments for the wider research community, deliver a mature programme of research which will place the Unit as a centre of excellence for this approach.

Technical Summary

A full understanding of the biological underpinnings of health and disease requires appropriate use of genomic data with high quality phenotypic measures. However the exhaustive collection of phenotypic measurements in large studies is impractical and not the most efficient approach to the allocation of finite resources. Therefore the targeted measurement of dense or precise phenotypic characteristics within selected groups is appealing. This programme will comprehensively assess and test the use of genotypes known to be correlated with features of interest, or which require further examination given unexplained correlations with disease, to define strata or subsamples for intense or directed phenotypic data collection. This will allow examination of detailed phenotypic information in financially and pragmatically feasible sample sizes, with analytical power optimized for measurement depth and precision. The motivation for employing genotypic data in this way is the pursuit of causal relationships based on the Mendelian randomization paradigm.

This programme will develop and apply Recall By Genotype (RBG): a study design where the recruitment of a sub-set of participants from an existing study, analysis of their biosamples or collection of new data is undertaken on the basis of measured genotypic variation. This work falls naturally into the MRC University of Bristol Integrated Epidemiology Unit (IEU) midway between methodological development and application and intervention, since it aims to (i) develop methods for incorporating prior knowledge of genotype into study design; and (ii) to apply this approach to specific clinical examples.

The development of RBG is boundary-pushing as it directly addresses the integration of genetic data into study design, harnesses the theoretical developments around causal inference derived from Mendelian randomization and combines these within study frameworks suitable for the collection of ground-breaking phenotypic data. There are numerous benefits to this approach, however central to this programme is causal inference and the ability of RBG to capture this in relationships observed across strata assigned solely on the basis of genetic variation.


This programme will produce an operational toolkit for the application of RBG within MRC/UoB IEU and elsewhere, and will initiate a series of novel studies which will progress into an established programme of genotype-driven study designs.

Publications

10 25 50
 
Title Creative Reactions- Kayleigh Easey 
Description Collaboration with an artist to produce a piece of artwork that summarises my research on the effects of maternal and paternal drinking in pregnancy on offspring depression. 
Type Of Art Artwork 
Year Produced 2018 
Impact The artwork is to be displayed in an exhibition in Bristol, involved with Pint of Science. There is to be an opening event that is widely advertised to the public. This work will allow scientists to share with the public their research and the implications it may have. 
URL https://pintofscience.co.uk/events/bristol
 
Description Low cigarette consumption and risk of coronary heart disease and stroke: meta-analysis of 141 cohort studies in 55 study reports - citation
Geographic Reach Europe 
Policy Influence Type Citation in systematic reviews
URL http://www.bmj.com/content/360/bmj.j5855
 
Description 2 years post-doctoral Marie-Curie fellowship. The acronym is MECoCaM - Robert Carreras-Torres
Amount € 155,000 (EUR)
Funding ID 796216 
Organisation Marie Curie 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2018 
End 08/2020
 
Description Assessing direction and causality in the association between BMI and head and neck cancer survival: A pilot study. (Timpson N, Dudding T, Martin RM, Ness A, Thomas S.)
Amount £57,351 (GBP)
Funding ID 2018/1792 
Organisation World Cancer Research Fund 
Sector Charity/Non Profit
Country Global
Start 03/2019 
End 02/2021
 
Description Biomedical Research Centre (BRC) in Cardiovascular disease, mental health, nutrition, diet and lifestyle (including obesity), reproductive and perinatal health, surgical innovation.
Amount £20,000,000 (GBP)
Organisation National Institute for Health Research 
Sector Public
Country United Kingdom
Start 04/2017 
End 04/2022
 
Description British Heart Foundation funded PhD programme in cardiovascular science. Interdisciplinary PhD studentship programme in integrative cardiovascular science. 5 students per year for 4 years.
Amount £2,500,000 (GBP)
Organisation British Heart Foundation (BHF) 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2017 
End 10/2021
 
Description Clinical Research Training Fellowship (Simon Haworth)
Amount £167,384 (GBP)
Funding ID 201268/Z/16/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 05/2016 
End 05/2019
 
Description Cohorts as Platforms for Mental Health research (MRC MH Pathfinder)
Amount £1,497,192 (GBP)
Funding ID MC_PC_17210 
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 03/2018 
End 03/2020
 
Description Creating a West African BioResource for Nutritional Genetics and Epigenetics
Amount £186,171 (GBP)
Funding ID MC_PC_MR/R020183/1 
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 01/2018 
End 12/2018
 
Description Creating a West African BioResource for Nutritional Genetics and Epigenetics
Amount £186,171 (GBP)
Funding ID MC_PC_MR/R020183/1 
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 03/2018 
End 02/2019
 
Description Cytoprotective defence mechanisms during tissue maintenance and repair - Helen Weaver
Amount £1,159,829 (GBP)
Funding ID 208762/Z/17/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 07/2018 
End 07/2023
 
Description Development of ALSPAC Industry Partner and Participant Portal (Timpson NJ, Skinner A.)
Amount £15,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 05/2018 
End 05/2019
 
Description Diabetes UK, Emma Vincent RD Lawrence Fellowship The influence of cancer on people with type 2 diabetes 17/0005587
Amount £587,237 (GBP)
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2017 
End 08/2022
 
Description Diagnoptics - AGE readers for field use (Recall by Genotype) in the MRC IEU
Amount £50,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 02/2017 
End 05/2017
 
Description EPSRC Impact Acceleration Award- Matthew Lee
Amount £14,987 (GBP)
Organisation Engineering and Physical Sciences Research Council (EPSRC) 
Sector Academic/University
Country United Kingdom
Start 10/2018 
End 12/2019
 
Description Elizabeth Blackwell Institute (University of Bristol) award with contribution from the Wellcome Trust's Institutional Strategic Support Fund
Amount £7,462 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2013 
End 12/2014
 
Description Elizabeth Blackwell Institute Extension Fellowship (Leila Thuma)
Amount £46,467 (GBP)
Organisation University of Bristol 
Department Elizabeth Blackwell Institute for Health Research
Sector Academic/University
Country United Kingdom
Start 11/2016 
End 08/2017
 
Description Elizabeth Blackwell Institute Postgraduate Extension Scheme (Michelle Taylor)
Amount £32,817 (GBP)
Organisation University of Bristol 
Department Elizabeth Blackwell Institute for Health Research
Sector Academic/University
Country United Kingdom
Start 10/2016 
End 06/2017
 
Description Faculty capital bid for portable OCT machine (Alexandra Creavin)
Amount £60,000 (GBP)
Organisation University of Bristol 
Sector Academic/University
Country United Kingdom
Start 10/2015 
 
Description Genetic, Molecular and Lifecourse Epidemiology PhD in "The human gut microbiome as a modifier of human health" Miss Rosalyn Frasier
Amount £120,000 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2019 
End 10/2023
 
Description MRC Mental Health Pathfinder Award
Amount £1,400,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 04/2018 
End 04/2020
 
Description MRC Proximity to Discovery Industry Engagement Fund (Tom Richardson)
Amount £12,225 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 08/2016 
End 05/2017
 
Description MRC Public Engagement Seed Fund- Matthew Lee
Amount £5,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 01/2018 
End 12/2019
 
Description Marie-Curie fellowship Robert Carreras-Torres (Fellow) MECoCaM - microbiome and health. (Ref: 796216)
Amount € 155,000 (EUR)
Funding ID 796216 
Organisation Marie Curie 
Sector Charity/Non Profit
Country United Kingdom
Start 04/2018 
End 04/2020
 
Description Molecular, Genetic and Lifecourse Epidemiology
Amount £1,350,000 (GBP)
Funding ID 108902/B/15/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2016 
End 10/2019
 
Description Molecular, Genetic and Lifecourse Epidemiology - PhD programme (original programme funding and extension - awarded in 2015, extended by one year in 2017)
Amount £1,820,000 (GBP)
Funding ID 108902/Z/15/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2016 
End 10/2024
 
Description Molecular, Genetic and Lifecourse Epidemiology. PhD programme to provide 3 PhD students per year (on 4-year PhD programmes) for the intake years 2016/17, 2017/18, 2018/19, 2019/2020. (108902/Z/15/Z).
Amount £1,820,000 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2016 
End 01/2016
 
Description NIHR Biomedical Research Centre Bristol
Amount £20,858,545 (GBP)
Funding ID BRC-1215-20011 
Organisation National Institute for Health Research 
Sector Public
Country United Kingdom
Start 04/2017 
End 03/2022
 
Description Population Research Committee - Programme Award Reducing the burden of cancer: causal risk factors, mechanistic targets and predictive biomarkers
Amount £4,100,000 (GBP)
Funding ID 19169 
Organisation Cancer Research UK 
Sector Charity/Non Profit
Country United Kingdom
Start 06/2015 
End 05/2020
 
Description The Millennium Cohort Study Sweep 6 (Age 14) Survey (GWAS data collection).
Amount £1,000,000 (GBP)
Organisation ESRC Impact Acceleration Account Cambridge 
Sector Academic/University
Country United Kingdom
Start 02/2018 
End 02/2019
 
Description The Millennium Cohort Study Sweep 6 (Age 14) Survey - extension (GWAS data collection and analysis)
Amount £1,052,503 (GBP)
Organisation Economic and Social Research Council 
Sector Public
Country United Kingdom
Start 01/2017 
End 03/2018
 
Description The human gut microbiome in colorectal cancer: causal effects vs. confounded companionship (Kaitlin Wade)
Amount £2,250 (GBP)
Organisation University of Bristol 
Sector Academic/University
Country United Kingdom
Start 06/2018 
End 06/2019
 
Description Type 2 Diabetes and Cancer: RD Lawrence Fellowship - Emma Vincent
Amount £587,237 (GBP)
Funding ID 17/0005587 
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2017 
End 09/2022
 
Description University of Bristol Alumni Foundation Grant- Matthew Lee
Amount £1,000 (GBP)
Organisation University of Bristol 
Sector Academic/University
Country United Kingdom
Start 10/2018 
End 12/2019
 
Description University of Bristol Outreach Grant- Mathew Lee
Amount £1,000 (GBP)
Organisation University of Bristol 
Sector Academic/University
Country United Kingdom
Start 10/2018 
End 12/2019
 
Description University of Bristol Widening Participation Grant- Matthew Lee
Amount £1,000 (GBP)
Organisation University of Bristol 
Sector Academic/University
Country United Kingdom
Start 10/2018 
End 12/2018
 
Description Wellcome Trust Helen Weavers Sir Henry Dale Wellcome: Cytoprotective defence mechanisms during tissue maintenance and repair.
Amount £150,829 (GBP)
Funding ID 208762 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2018 
End 01/2023
 
Description Wellcome Trust Research Training Fellowship (Tom Dudding)
Amount £187,327 (GBP)
Funding ID 201237/Z/16/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2016 
End 09/2019
 
Description What lies behind the causal impact of body mass index (BMI) level and change on human health? Added value from complementary study design and deep metabolomic phenotyping.
Amount £1,850,000 (GBP)
Funding ID 202802/Z/16/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2016 
End 08/2022
 
Title Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference 
Description Detailed phenotyping is required to deepen our understanding of the biological mechanisms behind genetic associations. In addition, the impact of potentially modifiable risk factors on disease requires analytical frameworks that allow causal inference. We have described the characteristics of Recall-by-Genotype (RbG) as a study design aimed at addressing both these needs. We have considered the efficacy and practicality of the RbG approach, provide a catalogue of UK-based resources for such studies and present an online RbG study planner. 
Type Of Material Improvements to research infrastructure 
Year Produced 2017 
Provided To Others? Yes  
Impact Recent development. notably described here: https://www.nature.com/articles/s41467-018-03109-y - with related software - see the link below. 
URL http://www.bristol.ac.uk/integrative-epidemiology/faciliitiesresources/software/
 
Title Handling ethical queries and feedback within studies of genetic sequence data. 
Description This work provides a discussion and framework for the handling of incident and pertinent findings in the analysis of sequence data. 
Type Of Material Improvements to research infrastructure 
Provided To Others? No  
Impact NA 
URL http://www.nature.com/ejhg/journal/v22/n9/full/ejhg2013290a.html
 
Title Management of a whole genome sequencing project and data 
Description This work presents lessons learnt from the management of a whole genome sequence data project. 
Type Of Material Improvements to research infrastructure 
Provided To Others? No  
Impact This work has been published: Genome Med. 2013 Nov 15;5(11):100. doi: 10.1186/gm504. eCollection 2013. Implementing a successful data-management framework: the UK10K managed access model. Muddyman D1, Smee C1, Griffin H2, Kaye J2. 
 
Title Management of clinical information within a whole genome sequence project 
Description This work considers and advises on how to handle data which is clinically important within the context of a whole genome sequence project. 
Type Of Material Improvements to research infrastructure 
Provided To Others? No  
Impact This work has been published: Eur J Hum Genet. 2014 Sep;22(9):1100-4. doi: 10.1038/ejhg.2013.290. Epub 2014 Jan 15. Managing clinically significant findings in research: the UK10K example. Kaye J1, Hurles M2, Griffin H1, Grewal J3, Bobrow M4, Timpson N5, Smee C2, Bolton P6, Durbin R2, Dyke S2, Fitzpatrick D7, Kennedy K2, Kent A8, Muddyman D2, Muntoni F9, Raymond LF4, Semple R4, Spector T10; UK 10K. 
 
Title Power calculations for the undertaking of genetic sequence analysis of rare variants. 
Description This work provides a framework within which power calculations for the analysis of rare variants from genetic sequence data can be undertaken. 
Type Of Material Improvements to research infrastructure 
Provided To Others? No  
Impact NA 
URL http://onlinelibrary.wiley.com/doi/10.1002/gepi.21797/abstract
 
Title Protocol for recall by genotype study - sleep 
Description This work provides a framework within which recall by genotype studies can be undertaken. 
Type Of Material Improvements to research infrastructure 
Provided To Others? No  
Impact This description is now published: BMC Med Genet. 2015 Oct 24;16:96. doi: 10.1186/s12881-015-0244-4. Genetics, sleep and memory: a recall-by-genotype study of ZNF804A variants and sleep neurophysiology. 
URL http://www.biomedcentral.com/1471-2350/15/13
 
Title Protocol for recall by genotype study - smoking 
Description This work provides a written protocol for the undertaking of recall by genotype studies. 
Type Of Material Improvements to research infrastructure 
Provided To Others? No  
Impact This work is now published: BMC Med Genet. 2014 Jan 22;15:13. doi: 10.1186/1471-2350-15-13. A recall-by-genotype study of CHRNA5-A3-B4 genotype, cotinine and smoking topography: study protocol. Ware JJ1, Timpson N, Davey Smith G, Munafò MR. 
 
Title Recall by Genotype Study Planner - app 
Description This is an online "shiny app" which is designed to accompany a position paper describing the principal and application of Recall by Genotype as a research method. It allows the calculation of statistical power and study cost (in comparison to other more conventional designs) in a series of study formats. 
Type Of Material Improvements to research infrastructure 
Year Produced 2016 
Provided To Others? Yes  
Impact This research tool will be released in full form with the publication of the Recall by Genotype position paper. 
 
Title Statistical thresholds for the analysis of whole genome sequence data. 
Description This work provides guidelines for the setting of statistical thresholds when analysing whole genome sequence data. 
Type Of Material Improvements to research infrastructure 
Provided To Others? No  
Impact This work has been published: Genet Epidemiol. 2014 May;38(4):281-90. doi: 10.1002/gepi.21797. Epub 2014 Feb 14. Estimating genome-wide significance for whole-genome sequencing studies. Xu C1, Tachmazidou I, Walter K, Ciampi A, Zeggini E, Greenwood CM; UK10K Consortium. 
 
Title Web resource for the provision of UK10K sequence data, the display of results, related information and ethical documentation. 
Description This resource provides a collection of material from the UK10K project which involved the sequencing of over 4000 population based human genomes. Resources include: (i) access to raw data (ii) results from association study analysis (rare and common genetic variants) through an integrated browser (iii) ethical documentation (iv) related publications and management information 
Type Of Material Improvements to research infrastructure 
Year Produced 2013 
Provided To Others? Yes  
Impact NA 
URL http://www.uk10k.org
 
Title ALSPAC - genomewide genetic data resources 
Description Currently I am responsible for the delivery of genomewide data from the ALSPAC collection. With over 18000 mother and child samples, this is being increased to include partners/fathers and to make best use of newly available deep imputation panels. 
Type Of Material Database/Collection of data 
Provided To Others? No  
Impact The resource is fully described online and is available to the academic community. 
URL http://www.bris.ac.uk/alspac/
 
Title Browser for the UK10K whole genome sequencing project 
Description This work represents the need for a way to present both whole genome sequence data and the results obtained from the analysis of those data (for phenotypic associations in principle). This browser is an existing solution to the need to display genomewide results for sequencing data. 
Type Of Material Database/Collection of data 
Provided To Others? No  
Impact This work has been published: Bioinformatics. 2015 Dec 15;31(24):4029-31. doi: 10.1093/bioinformatics/btv491. Epub 2015 Aug 26. An interactive genome browser of association results from the UK10K cohorts project. Geihs M1, Yan Y1, Walter K1, Huang J1, Memari Y1, Min JL2, Mead D1; UK10K Consortium, Hubbard TJ3, Timpson NJ2, Down TA4, Soranzo N5. 
 
Title Deep imputation from reference panels derived from whole genome sequence data. 
Description This work describes the value added from deep imputation given new reference panels derived from whole genome sequencing - as we undertook with the UK10K project. 
Type Of Material Data analysis technique 
Provided To Others? No  
Impact This work is published: Nat Commun. 2015 Sep 14;6:8111. doi: 10.1038/ncomms9111. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng HF; UK10K Consortium, Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N. 
 
Title Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference 
Description Detailed phenotyping is required to deepen our understanding of the biological mechanisms behind genetic associations. In addition, the impact of potentially modifiable risk factors on disease requires analytical frameworks that allow causal inference. We have described the characteristics of Recall-by-Genotype (RbG) as a study design aimed at addressing both these needs. We presented two broad scenarios for the application of RbG: studies using single variants and those using multiple variants. We also considered the efficacy and practicality of the RbG approach, provide a catalogue of UK-based resources for such studies and present an online RbG study planner. 
Type Of Material Data analysis technique 
Year Produced 2017 
Provided To Others? Yes  
Impact First described here:https://www.biorxiv.org/content/early/2017/04/12/124586, then formally here: https://www.nature.com/articles/s41467-018-03109-y 
URL http://www.bristol.ac.uk/integrative-epidemiology/faciliitiesresources/software/
 
Title Haplotype reference consortium - deep imputation reference panel 
Description This is a collection of >25000 whole human genomes which has been brought together, called, phased and made available as an imputation reference panel to the academic community. 
Type Of Material Database/Collection of data 
Provided To Others? No  
Impact This resource currently has a service provision element where collaborative servers can be used for the imputation of existing GWAS data sets. This is currently the most effective imputation resource available (ahead of 1000 genomes or HAPMAP). 
URL http://www.haplotype-reference-consortium.org/data-access
 
Title The European Genome-phenome Archive of human data consented for biomedical research 
Description The 4000 sequences including 2000 sequences generated from ALSPAC participants are deposited in EGA. After an application procedure, every researcher has access to the sequences generated for the UK10k project. 
Type Of Material Database/Collection of data 
Year Produced 2015 
Provided To Others? Yes  
Impact n/a 
URL https://www.ebi.ac.uk/ega/home
 
Title UK10K - population based whole genome sequencing 
Description This is the collection of raw data and results from the UK10K study. By studying and comparing the DNA of 4,000 people whose physical characteristics are well documented, the project aims to identify those changes that have no discernible effect and those that may be linked to a particular disease; by studying the changes within protein-coding areas of DNA that tell the body how to make proteins of 6,000 people with extreme health problems and comparing them with the first group, it is hoped to find only those changes in DNA that are responsible for the particular health problems observed. 
Type Of Material Database/Collection of data 
Year Produced 2012 
Provided To Others? Yes  
Impact This work has been published: Nature. 2015 Oct 1;526(7571):82-90. doi: 10.1038/nature14962. Epub 2015 Sep 14. The UK10K project identifies rare variants in health and disease. UK10K Consortium, Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE,Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R,Soranzo N. 
URL http://www.uk10k.org
 
Description Alastair Poole - University of Bristol, Physiology and Pharmacology 
Organisation University of Bristol
Department School of Physiology, Pharmacology and Neuroscience
Country United Kingdom 
Sector Academic/University 
PI Contribution In a phenotype based recall examination of the impact of DNA methylation on the function of platelets (given existing findings around the implications of smoking for biological function and gene regulation), we have provided access to genetic data and a working set of participants for the undertaking of the study (along with the original motivation for this work).
Collaborator Contribution Our collaborators (Poole and colleagues) have provided expertise in the collection and analysis platelet function data (as collected from the examination of whole blood samples).
Impact NA
Start Year 2013
 
Description Baby Biome - the human gut microbiome from birth to early life (Kaitlin Wade) 
Organisation Wellcome Trust
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution In collaboration with Trevor Lawley's group in the Wellcome Sanger Institute, Nic Timpson and I are contributing either data or causal analysis expertise to the 'Baby Biome' study that Trevor is planning, which will involve getting routine fecal samples (and meta-data) from babies at birth and followed up for a couple of years. One research fellow (Ana Zhu) within Trevor's group is also working with us to plan a study that aims to understand the link between the human gut microbiome transmission and health in children who may have shared environmental cues.
Collaborator Contribution Trevor has been open with his plans with Baby Biome and is keen to collaborate.
Impact No outputs as of yet
Start Year 2017
 
Description Birmingham Phenome Centre 
Organisation University of Birmingham
Country United Kingdom 
Sector Academic/University 
PI Contribution The Phenome Centre Birmingham is a large metabolic phenotyping facility led by internationally-recognised metabolomics and clinical experts at the University of Birmingham, in collaboration with Birmingham Health Partners. The centre has been established as part of a UK Stratified Medicine initiative led by the Medical Research Council (MRC) to develop capacity and capability to perform large-scale metabolic phenotyping of the human population for stratified medicine. The centre will work towards improving healthy ageing and disease diagnosis and treatment to enhance patient outcome. The centre is providing a key collaborator in the collection of specific mass spectrometry data in experiments explicitly designed to explore the downstream implications of genetic mutations discovered in genomewide genetic association studies.
Collaborator Contribution The collection of detailed liquid chromatography mass spectrometry data on specific samples, the cleaning of raw data and the undertaking of preliminary analyses (this forms an ongoing collaborative relationship).
Impact na
Start Year 2016
 
Description Breast Cancer Association Consortium (BCAC)- Association between metabolic traits, IGF axis and breast cancer risk 
Organisation University of Cambridge
Country United Kingdom 
Sector Academic/University 
PI Contribution Our research team were involved in data analysis and writing up of the manuscript.
Collaborator Contribution For our Mendelian Randomization analyses, the Breast Cancer Association Consortium (BCAC) provided us with individual level and summary level GWAS data of breast cancer risk.
Impact Mendelian Randomization analyses investigating association between metabolic traits and IGF axis with breast cancer risk have been completed and a paper is being drafted.
Start Year 2016
 
Description Collaboration with industry - data analysis and processing - Metabolon 
Organisation Metabolon Inc
Country United States 
Sector Private 
PI Contribution The handling and processing of mass spec' data from Metabolon both for the analysis of complex traits in cross section and longitudinal data; the development of methods for meta-analysis and bringing together data sets and batches; the application of Metabolon MS data to trials and studies of the human microbiome.
Collaborator Contribution Analytical expertise from the point of view of the data generation. This and data collection.
Impact NA
Start Year 2016
 
Description Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology Consortium (EAGLE) 
Organisation Early Growth Genetics Consortium (EGG)
Country United Kingdom 
Sector Private 
PI Contribution Genetic association results and methods have been taken from our work and applied within the EAGLE and EGG frameworks. There has been a primary focus on birthweight, but other health outcomes have been assessed and results developed through the period of collaboration. Collaboration has been longstanding and continues currently.
Collaborator Contribution From these consortia we have been able to obtain the types of sample size required to undertake association testing and applied analysis of complex phenotypic outcomes.
Impact Please see http://egg-consortium.org/ for a list of publications/outputs from the EGG consortium.
Start Year 2013
 
Description Evaluating therapeutic targets using large-scale populations resources and bioinformatics with collaborators from Sanofi 
Organisation Sanofi
Country Global 
Sector Private 
PI Contribution We have been researching therapeutic targets which are of interest to Sanofi. We have analysed large-scale data and developed an analytical pipeline to conduct in-depth evaluations for future targets of interest.
Collaborator Contribution We have been in regular contact with collaborators to structure the manner in which we are undertaking research. We have also had to face-to-face exchanges to share knowledge and progress in this research area.
Impact Poster presentation at the University of Bristol Industry Day: http://www.bristol.ac.uk/biomedical-sciences/research/industry-event/ Disciplines include: Genetic Epidemiology Statistical Genetics Epigenetics Bioinformatics
Start Year 2016
 
Description GEnetic Factors for Osteoporosis Consortium (GEFOS) 
Organisation Genetic Factors for Osteoporosis Consortium (GEFOS)
Country Netherlands 
Sector Charity/Non Profit 
PI Contribution As a result of the sequencing analyses we have been able to undertake, we have ref analysis results into the GEFOS consortium meta-analyses focusing on the genetic contributions to bone health. This is a development of an existing collaboration.
Collaborator Contribution The consortium has in principle provided the analytical power (through sample size) to undertake analyses of this nature.
Impact NA
Start Year 2013
 
Description GWAS of dietary preferences (Kaitlin Wade) 
Organisation University of Edinburgh
Country United Kingdom 
Sector Academic/University 
PI Contribution I am in contact with Nicola Pirastu, who has generated the dietary preference data for ALSPAC (Questionnaire from age 24) and aim is to be an analyst or at least contribute to the GWAS of these data.
Collaborator Contribution Nicola is aware of my availability and desire to be involved and will keep me updated
Impact No outputs as of yet
Start Year 2018
 
Description GWAS of macronutrient intake (Kaitlin Wade) 
Organisation University of Amsterdam
Country Netherlands 
Sector Academic/University 
PI Contribution I contributed genetic and phenotype data to a GWAS of dietary intake data from ALSPAC mothers. This contributed to a paper that has now been submitted, with reviews received, to Molecular Psychiatry (see publication list above).
Collaborator Contribution I am also using this results in my fellowship, which were shared by my collaborators.
Impact bioRxiv manuscript (see link above)
Start Year 2017
 
Description Gene-Lifestyle Interactions and Dental Endpoints - collaboration for the development of dental/oral health epidemiology. 
Organisation Umea University
Country Sweden 
Sector Academic/University 
PI Contribution We have one Wellcome Funded training fellow (clinical) dedicated to the use of this resource (amongst others) to pursue the development of oral health genetic epidemiology. This currently has a focus on GWAS and applied epidemiology pertinent to health outcomes such as coronary heart disease. We have also undertaken a series of basic observational studies to explore the relationships between oral health markers in large, population-based, studies.
Collaborator Contribution The availability of samples and GWAS resources for the undertaking of this analysis for GWAS and basic epidemiology. There has also been the initiation of an international consortium to build on GLIDE and increase sample size.
Impact https://www.biorxiv.org/content/early/2017/12/25/238824
Start Year 2014
 
Description Genetic studies of inflammatory profile and the relevance for cancer. 
Organisation University of Oulu
Country Finland 
Sector Academic/University 
PI Contribution Together we have been investigating the role of inflammatory cytokines (driven by common risk factors like BMI) in shaping cancer risk and progression. This is work driven by the methodologies developed in Bristol, available genetics studies for cancer and coincident studies for inflammatory markers (as provided by our collaborators).
Collaborator Contribution As above.
Impact NA
Start Year 2017
 
Description Genome-wide association study of DEXA-derived fat and lean mass (Kaitlin Wade) 
Organisation University of Cambridge
Country United Kingdom 
Sector Academic/University 
PI Contribution : I am currently an analyst of DEXA data from ALSPAC children and parents in collaboration with Claudia Langenberg's group in the MRC Epidemiology Unit, Cambridge. I will be analysing this data soon, which will contribute to a large collaboration meta-analysis with the GEFOS consortium to be published later this year.
Collaborator Contribution Provided me with an analysis plan for the GWAS and are helping me derive any missing phenotypes.
Impact No outputs as of yet.
Start Year 2018
 
Description Genome-wide association study of DEXA-derived fat and lean mass (Kaitlin Wade) 
Organisation University of Oxford
Country United Kingdom 
Sector Academic/University 
PI Contribution : I am currently an analyst of DEXA data from ALSPAC children and parents in collaboration with Claudia Langenberg's group in the MRC Epidemiology Unit, Cambridge. I will be analysing this data soon, which will contribute to a large collaboration meta-analysis with the GEFOS consortium to be published later this year.
Collaborator Contribution Provided me with an analysis plan for the GWAS and are helping me derive any missing phenotypes.
Impact No outputs as of yet.
Start Year 2018
 
Description Genomics Medical Centre - South West - as part of the Genomics England initiative. 
Organisation Genomics England
Country United Kingdom 
Sector Public 
PI Contribution I am the active University of Bristol representative on the West of England Genomics Medical Centre (part of Genomics England) Board. This requires regular attendance at board meetings for this outpost of Genomics England and also representation on the informatics arm of this part of the study.
Collaborator Contribution Board attendance through the planning and execution of this GMC. Regular Board meetings and meetings of the informatics working group to help deliver solutions as for the collection and curation of phenotypic and genetic data for this GMC.
Impact NA
Start Year 2016
 
Description Head and Neck 5000 - A Bristol based collection of cancer outcomes and genetic epidemiology. 
Organisation University of Bristol
Country United Kingdom 
Sector Academic/University 
PI Contribution Head and Neck 5000 is an exceptional resource for the analysis of progression (and risk) for this specific type of cancer. Through the collection and analysis of genetic data we will be exploring the role of a series of risk factors (including Vitamin D) in causal frameworks. A WT funded training fellow (clinical) is currently focusing on this data set as part of his PhD and as part of the ICEP propgramme.
Collaborator Contribution The provision and access to this resource is the key contribution from the study.
Impact NA
Start Year 2015
 
Description Hypothesis-free analysis of deep vein thrombosis aetiology (Emma Vincent): a Mendelian randomization study 
Organisation University of Bristol
Country United Kingdom 
Sector Academic/University 
PI Contribution I co-supervised undergraduate project student and helped prepare the manuscript for publication (It is currently on BiorXiv doi: 10.1101/476135). Emma Vincent was the primary supervisor. We collaborated with Platelet biologists situated in the School of Physiology and Pharmacology to conduct this work.
Collaborator Contribution Platelet biologists at The School of Physiology and Pharmacology helped with the interpretation of research findings and the preparation of a manuscript for publication
Impact BiorXiv doi: 10.1101/476135
Start Year 2018
 
Description ICEP/IEU collaboration - Genetics and Mendelian randomisation methods and application. 
Organisation University of Bristol
Department School of Social and Community Medicine
Country United Kingdom 
Sector Academic/University 
PI Contribution Through the joint activity of the MRC and the ICEP programmes we have been able to ensure that current and best practice approaches in both genetics and Mendelian randomisation are shared. This includes methods for handling, imputing and annotating genetics data fro recall studies and general analyses (such as GWAS in the UKBiobank collection), but also the application of Mendelian randomisation in real world examples to assess new methodology.
Collaborator Contribution NA
Impact Examples of pertinent outputs include: 1) Richardson TG, Shihab HA, Rivas MA, McCarthy MI, Campbell C, Timpson NJ..Gaunt TR. (2016). A Protein Domain and Family Based Approach to Rare Variant Association Analysis. PloS one, 11 (4), pp. e0153803 2) Richardson TG, Campbell C, Timpson NJ..Gaunt TR. (2016). Incorporating Non-Coding Annotations into Rare Variant Analysis. PloS one, 11 (4), pp. e0154181 3) Richardson TG, Timpson NJ, Campbell C..Gaunt TR. (2016). A pathway-centric approach to rare variant association analysis. European journal of human genetics : EJHG, 25 (1), pp. 123-129 4) Richardson TG, Shihab HA, Hemani G, Zheng J, Hannon E, Mill J..Gaunt TR. (2016). Collapsed methylation quantitative trait loci analysis for low frequency and rare variants. Human molecular genetics, 25 (19), pp. 4339-4349 5) Corbin LJ, ..Timpson NJ. (2016). Body mass index: Has epidemiology started to break down causal contributions to health and disease?. Obesity (Silver Spring, Md.), 24 (8), pp. 1630-8 6) McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A..Frase. (2016). A reference panel of 64,976 haplotypes for genotype imputation. Nature genetics, 48 (10), pp. 1279-83 7) Corbin LJ, Richmond RC, Wade KH, Burgess S, Bowden J, Smith GD..Timpson NJ. (2016). BMI as a Modifiable Risk Factor for Type 2 Diabetes: Refining and Understanding Causal Estimates Using Mendelian Randomization. Diabetes, 65 (10), pp. 3002-7 8) Burgess S, Scott RA, Timpson NJ, Davey Smith G, Thompson SG..EPIC- InterAct Consortium (2015). Using published data in Mendelian randomization: a blueprint for efficient identification of causal risk factors. European journal of epidemiology, 30 (7), pp. 543-52 9) Burgess S, Timpson NJ, Ebrahim S..Davey Smith G. (2015). Mendelian randomization: where are we now and where are we going?. International journal of epidemiology, 44 (2), pp. 379-88 10) Geihs M, Yan Y, Walter K, Huang J, Memari Y, Min JL..Soranzo N. (2015). An interactive genome browser of association results from the UK10K cohorts project. Bioinformatics (Oxford, England), 31 (24), pp. 4029-31 11) Corbin LJ, ..Timpson NJ. (2015). Using inactivating mutations to provide insight into drug action. Genome medicine, 7 (1), pp. 7 12) Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL..Soranzo N. (2015). Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nature communications, pp. 8111 13) UK10K Consortium Walter K, Min JL, Huang J, Crooks L, Memari Y..Soranzo N. (2015). The UK10K project identifies rare variants in health and disease. Nature, 526 (7571), pp. 82-90 14) Hellmich C, Durant C, Jones MW, Timpson NJ, Bartsch U..Corbin LJ. (2015). Genetics, sleep and memory: a recall-by-genotype study of ZNF804A variants and sleep neurophysiology. BMC medical genetics, pp. 96 15) Taylor A, Ware J, Gage S, Smith G..Munafò M. (2015). Using molecular genetic information to infer causality in observational data: Mendelian randomization. Current Opinion in Behavioral Sciences, pp. 39-45
Start Year 2016
 
Description IEU/ICEP Collaboration Recall by Genotype- Smoking Cessation 
Organisation University of Bristol
Department MRC Integrative Epidemiology Unit
Country United Kingdom 
Sector Academic/University 
PI Contribution CHRNA3/5 variation and the biological underpinnings of smoking behaviour and cessation. In collaboration with the MRC Integrative Epidemiology Unit (programme 3 - RbG) we have undertaken a RbG experiment assessing the detailed nature of smoking topography (important in the assessment of nicotine dependent smoking behaviour and cessation) by genetic variation in nicotine reception.
Collaborator Contribution Active through the University of Bristol, this collaboration represents ongoing work between ICEP, the IEU and AstraZeneca focused on the importance of genetic variation at the nicotinic receptor (CHRNA3/5) for the underpinnings of smoking behaviour (smoking topography and response to nicotine challenge) and the factors feeding into effective cessation. Using the Recall by Genotype (RbG) design, the work led by a collaborative RA (Glenda Lassi) has undertaken a novel investigation into the fine measurement of smoking behaviour.
Impact 1) Ware JJ, Timpson N, Davey Smith G..Munafò MR. (2014). A recall-by-genotype study of CHRNA5-A3-B4 genotype, cotinine and smoking topography: study protocol. BMC medical genetics, pp. 13 2) Taylor AE, Davies NM..Munafò MR. (2015). Smoking and diabetes: strengthening causal inference. The lancet. Diabetes & endocrinology, 3 (6), pp. 395-6 3) Taylor G, Taylor A, Munafò MR, McNeill A..Aveyard P. (2015). Does smoking reduction worsen mental health? A comparison of two observational approaches. BMJ open, 5 (5), pp. e007812 4) Sattar N, Sorensen T, Taylor AE, Morris R..Munafò MR. (2015). Smoking and diabetes risk: building a causal case with clinical implications. The lancet. Diabetes & endocrinology, 3 (12), pp. 918-20 5) Davies NM, Taylor G, Taylor AE, Thomas KH, Windmeijer F, Martin RM..Munafò MR. (2015). What are the effects of varenicline compared with nicotine replacement therapy on long-term smoking cessation and clinically important outcomes? Protocol for a prospective cohort study. BMJ open, 5 (11), pp. e009665 6) Taylor AE, Lu F, Carslake D, Hu Z, Qian Y, Liu S..Smith GD. (2015). Exploring causal associations of alcohol with cardiovascular and metabolic risk factors in a Chinese population using Mendelian randomization analysis. Scientific reports, pp. 14005 7) Morris RW, Taylor AE, Fluharty ME, Bjørngaard JH, Åsvold BO, Elvestad Gabrielsen M.. (2015). Heavier smoking may lead to a relative increase in waist circumference: evidence for a causal relationship from a Mendelian randomisation meta-analysis. The CARTA consortium. BMJ open, 5 (8), pp. e008808 8) Linneberg A, Jacobsen RK, Skaaby T, Taylor AE, Fluharty ME, Jeppesen JL..W. (2015). Effect of Smoking on Blood Pressure and Resting Heart Rate: A Mendelian Randomization Meta-Analysis in the CARTA Consortium. Circulation. Cardiovascular genetics, 8 (6), pp. 832-41 9) Taylor AE, Burgess S, Ware JJ, Gage SH, Richards JB, Davey Smith G..Munafò MR. (2016). Investigating causality in the association between 25(OH)D and schizophrenia. Scientific reports, pp. 26496 10) Treur JL, Taylor AE, Ware JJ, Nivard MG, Neale MC, McMahon G..Vink JM. (2016). Smoking and caffeine consumption: a genetic analysis of their association. Addiction biology, 11) Fluharty M, Taylor AE, Grabski M..Munafò MR. (2017). The Association of Cigarette Smoking With Depression and Anxiety: A Systematic Review. Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco, 19 (1), pp. 3-13 12) Gage SH, Jones HJ, Taylor AE, Burgess S, Zammit S..Munafò MR. (2017). Investigating causality in associations between smoking initiation and schizophrenia using Mendelian randomization. Scientific reports, pp. 40653 13) Teasdale J, Newby A, Timpson N, Munafò M..White S. (2016). Cigarette smoke but not electronic cigarette aerosol activates a stress response in human coronary artery endothelial cells in culture. Drug and Alcohol Dependence, pp. 256-260 14) Ware JJ, Chen X, Vink J, Loukola A, Minica C, Pool R, Milaneschi Y, Mangino M, Menni C, Chen J, Peterson RE, Auro K, Lyytikäinen LP, Wedenoja J, Stiby AI, Hemani G, Willemsen G, Hottenga JJ, Korhonen T, Heliövaara M, Perola M, Rose RJ, Paternoster L, Timpson N, Wassenaar CA, Zhu AZ, Davey Smith G, T Raitakari O, Lehtimäki T, Kähönen M, Koskinen S, Spector T, Penninx BW, Salomaa V, Boomsma DI, Tyndale RF, Kaprio J, Munafò MR. (2016). Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2. Scientific reports, pp. 20092 15) Richmond RC, Simpkin AJ, Woodward G, Gaunt TR, Lyttleton O, McArdle WL..Relton CL. (2015). Prenatal exposure to maternal smoking and offspring DNA methylation across the lifecourse: findings from the Avon Longitudinal Study of Parents and Children (ALSPAC). Human molecular genetics, 24 (8), pp. 2201-17 16) Lee KW, Richmond R, Hu P, French L, Shin J, Bourdon C..Pausova Z. (2015). Prenatal exposure to maternal cigarette smoking and DNA methylation: epigenome-wide association in a discovery sample of adolescents and replication in an independent cohort at birth through 17 years of age. Environmental health perspectives, 123 (2), pp. 193-9
Start Year 2015
 
Description IGF Working Group of CHARGE consortium: Association between lipids, vitamin D, insulin growth factor axis and cancer 
Organisation Albert Einstein College of Medicine
Department Department of Epidemiology & Population Health
Country United States 
Sector Academic/University 
PI Contribution Our research team conducted data analyses and were involved in the drafting of the manuscript.
Collaborator Contribution Our collaborators (CHARGE consortium/ IGF working group) provided us with summary level GWAS data from their IGF GWAS for two sample Mendelian Randomization analyses.
Impact 1)Completed Mendelian Randomization and observational analyses investigating relationship between circulating vitamin D and IGFBP-3 (Paper under review by Cancer Epidemiology Biomarkers and Prevention); and 2) Completed Mendelian Randomization analyses investigating relationship between lipids and IGF axis (Paper drafted).
Start Year 2016
 
Description International Agency for Research on Cancer - Mendelian randomisation, metabolomics and recall by genotype studies for cancer. 
Organisation International Agency for Research on Cancer (IARC)
Country France 
Sector Public 
PI Contribution Work together with key collaborators at IARC (Mattias Johansson, Paul Brennan and Marc Gunter) has led to a series of research foci which look to the use of applied genetic epidemiology to unpick causal contributions to cancer risk and progression.
Collaborator Contribution Financial contribution to the collection of metabolomic data, samples to analyse and related epidemiological data.
Impact NA
Start Year 2016
 
Description MAGIC - Meta-Analyses of Glucose and Insulin-related traits Consortium 
Organisation MAGIC (The Meta-Analyses of Glucose and Insulin-related traits Consortium)
Country Global 
Sector Charity/Non Profit 
PI Contribution We have provided GWAs analysis (and are currently expanding this) for meta-analysis within the MAGIC consortium. Results have been used and collaboration extended over a new set of meta-analyses (GWAS) which are updating the understanding/records of genetic contributions to glycaemic profile. This work i currently underway (2016/17). This is part of a long standing collaboration.
Collaborator Contribution The MAGIC consortium allow the type of sample size required for the analysis of complex traits.
Impact Please see www.magicinvestigators.org for publications.
Start Year 2015
 
Description Matt Jones - University of Bristol, Physiology and Pharmacology 
Organisation University of Bristol
Department School of Physiology, Pharmacology and Neuroscience
Country United Kingdom 
Sector Academic/University 
PI Contribution Collaborative project undertaking a recall by genotype examination of factors contributing to variation in specific patterns of neural oscillation. We have provided access to participants and the genetic data driving this work.
Collaborator Contribution Jones and colleagues have provided expertise in terms of the capture of neurological data from overnight sleep laboratories.
Impact NA
Start Year 2013
 
Description Mendelian randomization of the human gut microbiome on colorectal cancer (Kaitlin Wade) 
Organisation University of Barcelona
Country Spain 
Sector Academic/University 
PI Contribution As part of my fellowship, I have started a collaboration with the Genetics and Epidemiology of Colorectal Cancer Consortium to interrogate the causal association between the human gut microbiome and colorectal cancer. I will be analysing the data and contributing to either a single or multiple publications in collaboration with two other groups interested in this same scientific question.
Collaborator Contribution GECCO have provided me with the data that I will analyse.
Impact No outputs yet
Start Year 2018
 
Description Nightingale Health Metabolite Meta-analysis 
Organisation University of Cambridge
Country United Kingdom 
Sector Academic/University 
PI Contribution analyst, providing genomic and association analysis support
Collaborator Contribution analyst, providing genomic and association analysis support
Impact NA
Start Year 2018
 
Description Polygenic risk score of obesity across the lifecourse (Kaitlin Wade) 
Organisation Harvard University
Country United States 
Sector Academic/University 
PI Contribution In collaboration with Sekar Kathiresan's group in Harvard, I was an analyst for a paper that looked at the prediction of a genome-wide polygenic score of obesity in ALSPAC and continue to work with his group on this question.
Collaborator Contribution : Provided me with the analysis pipeline and is keen to continue the collaboration.
Impact No outputs as of yet
Start Year 2018
 
Description REPROGEN - the genetics of reproductive traits consortium 
Organisation ReproGen Consortium
Country Global 
Sector Academic/University 
PI Contribution We have provided GWAS analysis results and applied analyses of incorporation within meta-analyses and extension of work across the consortium. This is now running into new iterations of the original analysis and has completed publications throughout. This is a development of an existing collaboration.
Collaborator Contribution The consortium has in principle provided the analytical power (through sample size) to undertake analyses of this nature.
Impact Please see http://www.reprogen.org for publications list.
Start Year 2013
 
Description Recall by genotype investigations into the architecture of sleep 
Organisation University of Bristol
Country United Kingdom 
Sector Academic/University 
PI Contribution Together we have formulated a collaboration with Prof Matt Jones at the University of Bristol to undertake a recall bu genotype experiment to dissect detailed sleep related neuro-oscillatory phenotypes which are known to characterise schizophrenia. We have brought the methods for this and the study collection through the ALSPAC collection.
Collaborator Contribution Out collaborators have brought the expertise required to execute this research at a specialist sleep facility (CRiC) in Bristol and to analyse the specific data types derived from this study.
Impact https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4619339/
Start Year 2014
 
Description Recall by genotype: effects of BMI on cardiometabolic health 
Organisation University College London
Country United Kingdom 
Sector Academic/University 
PI Contribution This collaboration marks a specific exercise to chart the impact of differences in BMI/body composition on cardiometabolic health outcomes. Key collaborators include Profs Deanfield and Hughes and this work has led to series of specific research experiments and outcomes which have united UCL and the ALSPAC study for the collection of detailed cardiovascular phenotypes.
Collaborator Contribution The collaborators have been instrumental in securing funding, running the testing centres and helping to analyse and write up research findings.
Impact https://www.biorxiv.org/content/early/2017/04/10/112912, Nature Communications - Corbin et al 2018
Start Year 2013
 
Description Regions of Homozygosity genetics consortium - RoHGEN 
Organisation Regentec
Country United Kingdom 
Sector Private 
PI Contribution We have provided analysis and results (concentrating on the formation and analysis of runs of regions of homozygosity within the ALSPAC data collection) for inclusion and meta-analysis within the RoHGEN consortium.
Collaborator Contribution The consortium has in principle provided the analytical power (through sample size) to undertake analyses of this nature.
Impact NA
Start Year 2013
 
Description Social Science Genetics Association Consortium (SSGAC) 
Organisation Social Science Genetics Association Consortium
Country Global 
Sector Charity/Non Profit 
PI Contribution We have provided analysis and results for education (and intermediates) related data for meta-analysis within this consortium. This has been updated and rerun and now not only includes educational attainment, but well being and other behavioural outcomes. This is a development of an existing collaboration.
Collaborator Contribution The consortium has in principle provided the analytical power (through sample size) to undertake analyses of this nature.
Impact Publication in PNAS recently (second from consortium): Common genetic variants associated with cognitive performance identified using proxy-phenotype method", Rietveld et al., Proceedings of the National Academy of Sciences of the United States of America, 2014. http://www.pnas.org/content/early/2014/09/05/1404623111 ** please see SSGAC website for other publications
Start Year 2013
 
Description The ByBandSleeve randomised controlled trial. 
Organisation University of Bristol
Country United Kingdom 
Sector Academic/University 
PI Contribution The most powerful way to measure the impact of BMI on the metabolome is to observe response of the metabolome to BMI change. I am undertaking metabolomic profiling of bariatric surgery (BS) patients from the ByBandSleeve randomised controlled trial (RCT)(NIHR09/127/53,UK) before and after intervention. This trial is assessing the effectiveness of BS type at eleven hospitals where 1341 patients will be randomised to bypass, band or sleeve. This provides an important study for the integration of metabolomic change by extremes of BMI change/difference and forms a key collaboration for ongoing research.
Collaborator Contribution The research partners here are responsible for the running of the clinical trial which is providing samples for further omic investigation.
Impact NA
Start Year 2016
 
Description The CORNET Consortium - Brian Walker 
Organisation University of Edinburgh
Country United Kingdom 
Sector Academic/University 
PI Contribution The CORNET consortium is undertaking genomewide association studies for cortisol. I currently co-line manage on research associate who is working on the expansion of genetic analysis and Mendelian randomisation for health outcomes related to cortisol.
Collaborator Contribution Research partner Brian Walker provides considerable intellectual resource and leads the CORNET consortium. This is also the source of funding for the allocated research associate.
Impact Following the first GWAS analysis, data are now being collected for further study.
Start Year 2014
 
Description The DiRECT randomised controlled trial for medically induced weight loss. 
Organisation University of Newcastle
Country Australia 
Sector Academic/University 
PI Contribution The most powerful way to measure the impact of BMI on the metabolome is to observe response of the metabolome to BMI change. The DiRECT RCT(ISRCTN03267836,UK) is investigating weight change and glycaemic profile following a total diet replacement with structured food reintroduction. This provides an important study for the integration of metabolomic change by extremes of BMI change/difference and forms a key collaboration for ongoing research.
Collaborator Contribution The research partners here are responsible for the running of the clinical trial which is providing samples for further omic investigation.
Impact NA
Start Year 2016
 
Description The Flemish Gut Flora Project 
Organisation University of Leuven
Country Belgium 
Sector Academic/University 
PI Contribution The Flemish Gut Flora Project (FGFP) is a cross-sectional faecal sampling study in a confined geographic region. Over 3000 participants have detailed questionnaire, lifestyle, early life events and biomarker data. Participants are asked to fast for 8h before faecal sampling and serum collection and 16S ribosomal DNA (rDNA) sequencing has been undertaken to generate composition matrices of the faecal microbiome. I am currently collecting GWAS data for all available human DNA samples with microbiome data already available (n=3000). As an independent validation/replication collection, I have initiated a collaboration with TwinsUK which is a nationwide registry of volunteer twins in the UK. Along with extensive epidemiological, GWAS and Metabolon metabolomic data, faecal samples have been collected and currently 3000 have been processed in the same was as the FGFP.
Collaborator Contribution Professor Raes is a leading expert in microbiome research and my key collaborator at the Flemish Gut Flora Project (FGFP). He provides access to samples and data from the FGFP and with this critical analytical expertise for the handling of microbiome data (including metagenomic follow-up of 16S rDNA results) which is to be unified with applied epidemiological methods for causal analyses.
Impact Data being collected.
Start Year 2015
 
Description The INTERVAL randomised controlled trial of period in blood donation. 
Organisation University of Cambridge
Country United Kingdom 
Sector Academic/University 
PI Contribution This randomised controlled trial has as a byproduct of its formation, generated a large collection of samples from blood donors. The collection of genetics and metabolomics data on these participants allows for a detailed genetic characterisation of the genetics of metabolites which is a key contribution to the examination of metabolites as risk factors for health and disease.
Collaborator Contribution The collection of metabolomics and genetics data and sharing of summary data for further investigation.
Impact NA
Start Year 2016
 
Description The Netherlands Epidemiology of Obesity (NEO) 
Organisation Leiden University Medical Center
Country Netherlands 
Sector Multiple 
PI Contribution This is is a prospective cohort study of 6673 individuals aged 45-65 years, oversampling BMI 27kg/m2 and with a sub-sample of "normal" BMI (n~1000) allowing weighted analyses across all. Data on demography, lifestyle, and medical history have been collected and genome-wide association study (GWAS) data are available. I am currently collecting 1H-NMR metabolomic data from serum samples following 8hr fast at baseline and then 150 minutes after a standardised liquid-mixed-meal (>13000 samples).
Collaborator Contribution Ko Willems van Dijk - Leiden University Medical Centre & Netherlands Epidemiology of Obesity (NEO) study is my key collaborator at the NEO study and provide access to data and samples. They are also important advisory contacts with respect to the applied analysis of this collection taking into account the depth of phenotyping available and the nature of the sampling frame
Impact Data are currently being collected.
Start Year 2015
 
Description The SUNLIGHT consortium - Brent Richards 
Organisation McGill University
Country Canada 
Sector Academic/University 
PI Contribution The SUNLIGHT consortium is concerned with the genetic analysis of vitamin D levels. I am currently contributing to this through the analysis of vitamin D levels within the ALSPAC study and also through the coordination of access to the biomarker panel of the UK Biobank (expected at the end of 2016). This work was initiated in 2014, but is ongoing.
Collaborator Contribution SUNLIGHT is coordinated by my collaborator and ultimately responsible for scientific output. The work is balanced across centres, however, and two Bristol ACF analysts are undertaking this work in Bristol.
Impact Data analyses being undertaken.
Start Year 2015
 
Description The ethics of recall by genotype studies. 
Organisation Newcastle University
Country United Kingdom 
Sector Academic/University 
PI Contribution A partnership initiated in Bristol has now matured and is providing original research into the ethical issues generated in the use of genetics data to design the structure of new research studies.
Collaborator Contribution The provision of qualitative research expertise.
Impact https://www.biorxiv.org/content/early/2017/04/05/124636
Start Year 2015
 
Description University hospital, Herlev, Copenhagen and the Copenhagen general population, city heart and IHD studies - Borge Nordestgaard 
Organisation Copenhagen University Hospital
Country Denmark 
Sector Hospitals 
PI Contribution Over years and recently, we have provided both genetic association study results and the methodological developments developed in Bristol to our collaborators who have superb population based resources for followup and further analyses. This collaboration is longstanding, but is still active.
Collaborator Contribution Our collaborators (Nordestgaard and Tybjaerg Hansen) have been able to provide exceptional (in terms of size and data quality) data for the application of epidemiological studies probing the causal effects of potentially modifiable risk factors.
Impact A series of academic papers have been published as a result of this collaboration, though none directly since June 2013 whereby the activity has been analytical
Start Year 2013
 
Description Vitamin D and IGFBP-3 Mendelian Randomization 
Organisation Albert Einstein College of Medicine
Department Department of Epidemiology & Population Health
Country United States 
Sector Academic/University 
PI Contribution Two sample Mendelian Randomization analyses using summary level data (and circulating vitamin D measurements when available) will be led by myself and Dr Nicholas Timpson, but working cooperatively with others involved in the collaboration.
Collaborator Contribution Partners in this collaboration had contributed summary level data from their GWAS to this project.
Impact -A paper is currently in draft form.
Start Year 2015
 
Description Vitamin D and IGFBP-3 Mendelian Randomization 
Organisation University of Greifswald
Country Germany 
Sector Academic/University 
PI Contribution Two sample Mendelian Randomization analyses using summary level data (and circulating vitamin D measurements when available) will be led by myself and Dr Nicholas Timpson, but working cooperatively with others involved in the collaboration.
Collaborator Contribution Partners in this collaboration had contributed summary level data from their GWAS to this project.
Impact -A paper is currently in draft form.
Start Year 2015
 
Title https://www.nature.com/articles/s41467-018-03109-y 
Description Detailed phenotyping is required to deepen our understanding of the biological mechanisms behind genetic associations. In addition, the impact of potentially modifiable risk factors on disease requires analytical frameworks that allow causal inference. Here, we discuss the characteristics of Recall-by-Genotype (RbG) as a study design aimed at addressing both these needs. We have considered consider the efficacy and practicality of the RbG approach, provide a catalogue of UK-based resources for such studies and present an online RbG study planner. 
Type Of Technology Webtool/Application 
Year Produced 2017 
Impact NA 
URL https://www.nature.com/articles/s41467-018-03109-y
 
Description Participation in an activity, workshop or similar - CRUK lab tours and presentations (Southmead Hospital) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Patients, carers and/or patient groups
Results and Impact Presentation of research activity to patients and CRUK charity supporters.
Year(s) Of Engagement Activity 2018
 
Description 1. Horse Trust Symposium (Princes Risborough, UK) (Feb 2017) (Laura Corbin) 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Third sector organisations
Results and Impact Around 30 experts and opinion leaders from each of the key scientific disciplines that intersect at equine well-being: equine clinical disease, equine behaviour and human psychology, were brought together, alongside invited expert researchers who have worked with other species on similar questions. The goal of the symposium was to
Year(s) Of Engagement Activity 2017
 
Description 18th-21st August 2016 Einstein's Garden at Green Man Festival (Kaitlin Wade) 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact -In 2016, a group of staff and students from the MRC Integrative Epidemiology Unit returned to Einstein's Garden at Green Man Musical Festival with an interactive art installation called the "Data Mine", developed in collaboration with designer Philippa Thomas. The installation, which consisted of a central chamber representing a single human genome, aimed to artistically display the concept of the genome and genome-wide association studies (GWAS). Filling the central chamber with over 9000 ribbons, each of which corresponded to a different genetic trait, we constructed a colour-coded artistic display of the NCBI GWAS catalogue. Over the weekend, visitors to the garden brought order to the confusion by moving ribbons from the central chamber to the colour-coded outer walls. Visitors were instructed to select three ribbons and work with the researchers to uncover what each colour corresponded to which genetic traits. They were then invited to sit down with our researchers and have a conversation about their research whilst they plaited their genetic material ribbons in a 'genome' friendship bracelet to take of their own, part of which was deposited onto the outer wall. The installation was extremely popular, with around 2000 visitors over the course of the weekend. Slowly but surely, the jumbled colour of the central chamber 'genome' was brought into order on the outer walls, showing the proportion of genes that we know are associated with the specific colour-coded traits. The Data Min was the perfect platform to start a conversation with all members of the general population about genetic epidemiology and the research that we conduct in the IEU. The feedback was extremely positive, with the public showing great interest in the Data Mine and had many interesting questions regarding the human genome and genetic epidemiology.
Year(s) Of Engagement Activity 2016
 
Description 21st June 2016 Medical Research Council Festival of Medical Research [organiser and coordinator] (Kaitlin Wade) 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact -As part of the MRC Festival of Medical Research, we invited school groups to our facilities for a series of activities that aimed to engage them with the study of genetic epidemiology through looking at the interplay of genetics, data analysis and environmental influences of diseases/complex traits. TO do this, we constructed three themed rooms (data, genetics and environment), of which I was in charge and coordinated the data room. After a welcome talk by the programme leads, the group of students worked around the different rooms on thirty minute rotations. All school children showed great interest in the different topics discussed in the respective rooms and had great questions regarding genetics and epidemiology overall. A lot of the feedback was extremely positive, saying that we had made epidemiology really accessible and interesting to them.
Year(s) Of Engagement Activity 2016
 
Description 23rd June 2016 Talk to participants of the Avon Longitudinal Study of Parents and Children (Kaitlin Wade) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Study participants or study members
Results and Impact -The aim of this talk was to discuss the complexity of the human genome and how we use this in the context of genetic epidemiology, specifically giving the ALSPAC participants an idea about how we use their genetic data to inform us as a scientific community. Approximately 50 participants attended the talk, and showed great interest in the discussed topics as well as questions regarding genetics overall. A lot of the feedback was extremely positive, saying that I had made genetics (a previously seemingly complex topic) more accessible to a lay audience.
Year(s) Of Engagement Activity 2016
 
Description 28th April 2016 Authentic Biology: Schools engagement session, A level students [teacher] (Kaitlin Wade) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact -Along with a small group of other postgraduate researchers, the aim of this outreach programme was to (i) discuss the complexity of the human genome and how we use this in the context of genetic epidemiology. (ii) teach students the concept of genome-wide association studies and how to run these and (iii) debate whether individuals should have their genome sequenced at birth and how to interpret such personal genome sequences. Approximately 20 students attended the three sessions ran at their school, and showed great interest in the discussed topics as well as questions regarding careers within genetic epidemiology.
Year(s) Of Engagement Activity 2016
 
Description ALSPAC renewal design workshops - one held at the University of Bristol (5th June), one held at the Wellcome Trust (22nd June)- (Nic Timpson) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact ALSPAC renewal design workshops - one held at the University of Bristol (5th June), one held at the Wellcome Trust (22nd June)
Year(s) Of Engagement Activity 2018
 
Description Alcohol labelling event- Kaitlin Wade 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact We took our developed "Games of Life" - household games with an epidemiology twist - including "Guess Whose Genes", "Oh No!" and "Cigs and Ladders" to the event and played them with the general public.
Year(s) Of Engagement Activity 2018
 
Description American Society of Human Genetics (David Hughes) 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact international conference
Year(s) Of Engagement Activity 2018
URL https://www.ashg.org/2018meeting/
 
Description Assessing the causal role of body mass index on cardiovascular health in young adults: a Mendelian randomization and recall-by-genotype analysis- Kaitlin Wade 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact I had an oral presentation at the Longitudinal Studies Conference at the Wellcome Genome Campus, 2018.
Year(s) Of Engagement Activity 2018
URL https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.117.033278
 
Description Authentic Biology 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact This is a Wellcome Trust funded scheme where active science (i.e. that of value to the researcher) is undertaken by school students. Working at the Cotham School in Bristol, I undertook a genome wide association screen and practical lecture with a-level students. These students then followup results independently.

Active involvement in science.
Year(s) Of Engagement Activity 2013
 
Description Avon Longitudinal Study of Parents and Children SUM meeting to disseminate the activity of the MRC IEU to study staff. 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Dissemination of information, questions and discussion

NA
Year(s) Of Engagement Activity 2014
 
Description Avon Longitudinal Study of Parents and Children summer school - Unravelling DNA 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Participants in your research and patient groups
Results and Impact Dissemination of information, questions and discussion.

Increased awareness of research activity.
Year(s) Of Engagement Activity 2014
 
Description BBC radio Bristol - special session and interview (on air) on the health of fathers - 16th June (Nic Timpson) 
Form Of Engagement Activity A broadcast e.g. TV/radio/film/podcast (other than news/press)
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact BBC radio Bristol - special session and interview (on air) on the health of fathers - 16th June
Year(s) Of Engagement Activity 2018
 
Description BBC radio Bristol- Matthew Lee 
Form Of Engagement Activity A broadcast e.g. TV/radio/film/podcast (other than news/press)
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Interview and discussion on research
Year(s) Of Engagement Activity 2018
 
Description BCfm Radio- Matthew Lee 
Form Of Engagement Activity A broadcast e.g. TV/radio/film/podcast (other than news/press)
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Interview and discussion on research
Year(s) Of Engagement Activity 2018
 
Description Being overweight may change young adults' heart structure, function- Kaitlin Wade 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact I had a lot of media interest from a paper that was published in Circulation. Leveraging Cision (a premier earned media analytics service provider), the University press office estimated that the release generated 432,014,417 million media impressions, meaning it was featured in media outlets with a potential combined total circulation of that amount. In addition, it reached an estimated 73,700 individuals via American Heart Association social media channels.
Year(s) Of Engagement Activity 2018
URL http://newsroom.heart.org/news/being-overweight-may-change-young-adults-heart-structure-function
 
Description Big Bang Bristol, 2018- Matthew Lee 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Schools
Results and Impact Presentations, talks, workshops to communicate research and ALSPAC
Year(s) Of Engagement Activity Pre-2006,2018
 
Description Blog for TARG website (Michelle Taylor) 
Form Of Engagement Activity Engagement focused website, blog or social media channel
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact Blog written for the Tobacco and Alcohol research group website about interdisciplinary research.
Year(s) Of Engagement Activity 2016
URL http://targ.blogs.ilrt.org/2016/07/19/from-number-crunching-to-brains-my-experiences-of-interdiscipl...
 
Description Bristol Cats Study Meeting (University of Bristol, Bristol, UK) (May 2016) (Laura Corbin) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact Around 30 researchers interested in animal cohort studies gathered to discuss research and progress in this area. Following a series of presentations in the morning (including mine on ALSPAC), there were group discussions in the afternoon regarding the opportunities and challenges in the area of animal cohort studies.
Year(s) Of Engagement Activity 2016
 
Description Bristol Neuroscience Festival, 2018- Matthew Lee 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Schools
Results and Impact Research stand engaging audiences with my and others research
Year(s) Of Engagement Activity 2018
 
Description British Science Association - Future Debate: Genome Data Privacy 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Gibran Hermani and other members of the MRC IEU contributed to a panel of genomics researchers to discuss genetic data privacy with the public and see what their concerns for the future surrounding this topic are. Over 150 people attended raising interesting questions such as who profits from findings, the processes in place to ensure security etc.
Year(s) Of Engagement Activity 2016
 
Description CRUK lab tours and presentations (Southmead Hospital) (serveral dates) 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Supporters
Results and Impact ICEP have arranged and facilitated 2 lab tour events for members of the public. In Jan 2017 CRUK supporters and fundraisers travelled from across the South West to attend the event where ICEP Co-Investigators Nic Timpson, Claire Perks and Jeff Holly gave presentations to the public on ICEP and their work on cancer. The public then visited different interactive lab stations to see how the work gets put into practice. The stations included input from ICEP researchers Emma Vincent and Vanessa Tan who led a game based on 'Guess Who' introducing genome-wide association studies. The event received a huge amount of positive feedback with all participants reporting an improvement in knowledge and understanding of the cancer research being carried out in Bristol. Future lab tours have been arranged.
Year(s) Of Engagement Activity 2016,2017
 
Description Causality by design: Recall by genotype experiments for complex traits. 2nd International Conference on Mendelian Randomisation: From population health to pharmaceutical development 2015, Bristol, UK. 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact This was an invited research presentation at a major international meeting.
Year(s) Of Engagement Activity 2015
 
Description Characterization of the metabolic impact of rare genetic variation within APOC3: Proton NMR based analysis of rare variant gene effects. American Society of Human Genetics, Baltimore, October 2015. 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Presentation of research at a major international conference.
Year(s) Of Engagement Activity 2015
 
Description Characterization of the metabolic impact of rare genetic variation within APOC3: Proton NMR based analysis of rare variant gene effects. IGES, Baltimore, October 2015. 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Research presentation at a major international conference.
Year(s) Of Engagement Activity 2015
 
Description Complex trait genetic association studies within population based samples: GWAS, sequencing and the importance of phenotype. Wellcome Trust Advanced Courses - Design and analysis of genetic-based association studies 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Dissemination of information and sharing of experience.

NA
Year(s) Of Engagement Activity 2014
 
Description Creative Reactions 2018- Kaitlin Wade 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Creative Reactions in May 2018, which is a national event that pairs local artists and scientists together to create a piece of artwork that is motivated by the work of the scientist. In 2018, I was paired with local artist Molley Scoble, who generated an illustrative diagram of the gut microbiome and its interaction with the human body - entitled "Internal Flora".
Year(s) Of Engagement Activity 2018
URL https://www.bristol.ac.uk/news/2018/may/creative-reactions.html
 
Description Creative Reactions 2019- Kaitlin Wade 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Creative Reactions in May 2019, which is a national event that pairs local artists and scientists together to create a piece of artwork that is motivated by the work of the scientist. This year, I have been taking part in Creative Reactions 2019, where I have been paired with local micro-photographer, Chloe Russell, who is hoping to make a book entitled "Encyclopaedia of the Microbiome", where she is going to be taking abstract photographs of bacteria grown by herself from different body parts accompanied by an A-Z of bacterial facts and names.
Year(s) Of Engagement Activity 2019
 
Description Creative Reactions Bristol, 2018- Matthew Lee 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Creative Reactions is a science art exhibition, paring researchers and scientists together to produce creative works that explores and communicates the research. In 2018 35 researchers from Bristol and 35 artists from the South West participated, reaching >1,500 individuals. The projected has led to artist commissions and ongoing collaborations between artists and scientists.
Year(s) Of Engagement Activity 2018
 
Description Creative Reactions Bristol, 2019- Matthew Lee 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Creative Reactions is a science art exhibition, paring researchers and scientists together to produce creative works that explores and communicates the research. In 2019, 50 researchers from Bristol and Bath, and 50 artists from the South West (including 3 from continental Europe) participated, reaching > 5,000 individuals. The projected has led to artist commissions and ongoing collaborations between artists and scientists.
Year(s) Of Engagement Activity 2019
 
Description Developmental Origins of Health and Disease; Cape Town, South Africa, November 2015- Rebecca Richmond 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact The 9th World Congress of DOHaD brought together scientists, clinical researchers, obstetricians, pediatrician's, public health professionals and policy leaders from around the world. The event attracted more than 1200 participants. I presented findings from my PhD at the conference and participated in a panel Q&A session where I answered questions from the audience on my work.
Year(s) Of Engagement Activity 2015
 
Description Dissection of complex phenotypes using Mendelian randomisation and applied study design. MRC Harwell, May 2015. 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact This was an invited talk at a MRC research centre (MRC Harwell)
Year(s) Of Engagement Activity 2015
 
Description Does L-Ascorbic Acid Decrease Blood Pressure and Hypertension Risk- Kaitlin Wade 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Mendelian Randomization Using Genetic Variation at SLC23A1 in >17,000 Participants from 5 Independent Studies" at the 3rd Annual Leena Peltonen Summer School of Human Genomics in 2012
Year(s) Of Engagement Activity 2012
 
Description European Researchers Night, 2018- Matthew Lee 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Research stand communicating and engaging audiences with ALSPAC
Year(s) Of Engagement Activity 2018
 
Description FUTURES European Researchers Night- Kaitlin Wade 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact As part of the FUTURES European Researchers Night, we took the same stall as was taken to the Bristol Harbourside Festival along to the FUTURES event at We The Curious during the day (attended by school children) and during the evening (for the local public).
Year(s) Of Engagement Activity 2018
URL https://twitter.com/CO90s/status/1044974412448104448
 
Description Genetic epidemiology - from candidates, through GWAS and to where? University of Edinburgh/British Heart Foundation Centre for Cardiovascular Science Seminar Series. 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Postgraduate students
Results and Impact This was an invited seminar at the BHF research centre in Edinburgh at the Little France Campus.
Year(s) Of Engagement Activity 2016
 
Description Genetics in large-scale population based epidemiology: just another omic? London School of Hygiene and Tropical Medicine and University College London, genetic epidemiology seminar series 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Dissemination of information.

NA
Year(s) Of Engagement Activity 2013,2014
 
Description Genomics of Common Disease; Oxford, UK, September 2013 - Rebecca Richmond 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact TBC
Year(s) Of Engagement Activity 2013
 
Description Green Man festival, 2018- Matthew Lee 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Research stand at Green Man festival engaging audiences with my and others research.
Year(s) Of Engagement Activity 2018
 
Description Green man festival science stall within the Einstein's Garden exhibit. Gene genies public engagement stand to illustrate work undertaken by the MRC IEU. 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Dissemination of information, questions and discussion. This was a research installation/activity tent at a music festival over a series of days to involve and interact with the public.
Year(s) Of Engagement Activity 2015
URL http://www.greenman.net
 
Description Green man festival science stall within the Einstein's Garden exhibit. Gene genies public engagement stand to illustrate work undertaken by the MRC IEU. 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Dissemination of information, questions and discussion.

NA
Year(s) Of Engagement Activity 2014
 
Description Harbour Festival, 2018- Nic Timpson, Matthew Lee & Kaitlin Wade 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Research stand communicating and engaging audiences with ALSPAC
Year(s) Of Engagement Activity 2010,2018
 
Description Head Nor Tail- Kaitlin Wade 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact As an ongoing project since 2018, I have been collaborating with a local graphic designer, Laurence Ware, who has been developing a game inspired by the overall aim of epidemiological research - finding the cause of disease to ultimately improve health. After some iteration and game testing, we have developed a game and booklet to be manufactured and to distribute around the local Bristol area as a game to buy and also as part of our MRC-IEU public engagement toolkit.
Year(s) Of Engagement Activity 2018
 
Description I took part in a two-day meeting of the investigators involved in the multi-centre By-Band-Sleeve randomised control trial (being led by University of Bristol). (Laura Corbin) 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact I attended the annual Investigators meeting at which various presentations were made about the progress of the trial. I supported Nic Timpson in delivering a presentation about how our research is linked to the trial. I took part in discussions about the future research directions for the study.
Year(s) Of Engagement Activity 2018
URL http://www.by-band-sleeve.bristol.ac.uk/
 
Description IARC visit and lecture Recall by Genotype as an approach to the undertaking of applied genetic epidemiology-Nic Timpson (5th April 2018) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact IARC visit and lecture-dissemination of technique
Year(s) Of Engagement Activity 2018
 
Description INSPIRE - Initiative to give Medical, Dental and Vet students involved in research. Presentation at INSPIRE Conference 2016 Exeter University (Tom Dudding) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Undergraduate students
Results and Impact Presentation at INSPIRE Conference 2016, theme was getting involved in research. Talk focused on early clinical career research.
Year(s) Of Engagement Activity 2016
URL http://medicine.exeter.ac.uk/study/undergraduate/medicine/researchopportunities/inspireconference201...
 
Description Insight to Bristol- Kayleigh Easey 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Schools
Results and Impact As part of Insight to Bristol, school children aged 16 visited the University to hear about the research I was involved with as part of my PhD and life as a postgraduate at Bristol.
Year(s) Of Engagement Activity 2017
 
Description Intercalated BSc in Genomic Medicine at the University of Bristol 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Undergraduate students
Results and Impact The intercalated BSc in Genomic Medicine is a one-year degree programme for the 2016-17 academic year aimed at undergraduate medical students (though accessible to all suitably aligned undergraduates). Delivered by research-active staff and clinicians, it will present cutting-edge innovative research in genetics and genomics. Students will study the molecular basis of genetic variation, how to measure/understand/analyse genetic data, and the relevance of genomics to medicine in a pathology driven framework. Specific units in personal genomics, causal analyses in epidemiological analysis and a 12-week research project will then illustrate the application and value of an understanding of genetics and genomics in a practical sense. The programme offers medical students an opportunity to engage with medical research and will broaden future career options.
Year(s) Of Engagement Activity 2016,2017
URL http://www.bristol.ac.uk/social-community-medicine/courses/undergraduate/intercalated-genomic-medici...
 
Description Invited seminar, 2018- Matthew Lee 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Other audiences
Results and Impact Research Seminar
Year(s) Of Engagement Activity 2018
 
Description Invited session on the future of longitudinal studies - Wellcome Longitudinal Studies Conference, 30th June 2018 (Nic Timpson) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Invited session on the future of longitudinal studies - Wellcome Longitudinal Studies Conference, 30th June 2018 (Nic Timpson)
Year(s) Of Engagement Activity 2018
 
Description Is obesity causally linked to CVD? Physiological Society; Obesity: A Physiological Perspective 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Dissemination of information.

NA
Year(s) Of Engagement Activity 2014
 
Description Lassi G, Matcham J, Eisen T, Timpson N, Munafò MR. Smoking behaviour and CHRNA5-A3-B4 genotype. Early Clinical Discovery Retreat, AstraZeneca 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact N/A
Year(s) Of Engagement Activity 2015,2016
 
Description Lassi G, Matcham J, Eisen T, Timpson N, Munafò MR. Smoking behaviour and CHRNA5-A3-B4 genotype. Early Clinical Discovery Retreat, AstraZeneca 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact N/A
Year(s) Of Engagement Activity 2015
 
Description Learning Lives lecture and discussion (with Kathryn Abel) 2nd June (University of Bristol Education Centre) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Open discussion of pertinent issues around education and genetics.

NA
Year(s) Of Engagement Activity 2014
 
Description Lecturing for Human Sciences students at the University of Oxford 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Undergraduate students
Results and Impact Rebecca and Nic have fostered links with the Human Sciences department at the University of Oxford and have been invited to deliver lectures as part of the main syllabus on an annual basis.
Year(s) Of Engagement Activity 2013
 
Description Local online news interviews- Matthew Lee 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Interview and discussion on research
Year(s) Of Engagement Activity 2018
 
Description Ludwig Cancer Research - Invited session at the Cancer Prevention and Nutrition Conference 2018 - 3rd December- Using applied epidemiological designs to explore contributors to cancer risk and progression 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Ludwig Cancer Research - Invited session at the Cancer Prevention and Nutrition Conference 2018 - 3rd December- Using applied epidemiological designs to explore contributors to cancer risk and progression
Year(s) Of Engagement Activity 2018
 
Description MRC Festival of Medical Research 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Schools
Results and Impact Opening talk to school groups as part of a schools engagement event that aimed to engage them with epidemiology and the processes of research that we use at the MRC IEU.
Year(s) Of Engagement Activity 2016
 
Description MRC Festival of Medical Research 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Schools
Results and Impact Open house at the Integrative Epidemiology Unit (MRC) - As part of the MRC Festival of Medical Research we invited school groups into Oakfield House for a series of activities that aimed to engage them with the study of epidemiology through looking at the interplay of genetics, data analysis and environmental influences. Along with an introductory talk by our programme leads we constructed three themed (data, genetics and environment) rooms around the offices at Oakfield House.
Year(s) Of Engagement Activity 2016
URL https://www.youtube.com/watch?v=UlGtzqOEOnc&index=5&list=PLSus4fp7v7sTOQqK0KMDFYGtz6OD5E0ps
 
Description MRC Festival of Medical Research- Kaitlin Wade 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact In June 2018. One of my PhD students, Matthew Lee, and I went to a local primary school as part of the MRC Festival of Medical Research and taught two groups (~25 each) of year 3s and 4s about how to think critically and do scientific research, with the help of measuring lung and heart function.
Year(s) Of Engagement Activity 2018
 
Description Mendelian Randomization; Bristol, UK, June 2015- Rebecca Richmond 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact The IEU welcomed professionals interested in aetiological epidemiology and causality in population health and clinical medicine to this conference. The event attracted over 200 delegates from academia and industry. I presented findings from my PhD at the conference and answered questions from the audience after my presentation.
Year(s) Of Engagement Activity 2015
 
Description Mendelian randomisation and the application of applied genetic epidemiology. Umea University Hospital, May 2018 (Nic Timpson) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact A talk in Umea University Hospital- Mendelian randomisation and the application of applied genetic epidemiology
Year(s) Of Engagement Activity 2018
 
Description Mendelian randomisation: Studies of genetic variation and public health impact. The European Congress of Epidemiology: Healthy Living. June 2015, Maastricht, The Netherlands. 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact This was the reporting of scientific research (in this case theoretical and methodological developments) at a major international conference. This work also involved the undertaking of a follow-up "meet the experts" session immediately after the lecture. At this, an audience of around 30 people were able to followup the previous lecture and ask technical questions. This audience was almost entirely research analysts.
Year(s) Of Engagement Activity 2015
 
Description Next-generation genetic association studies within population based samples: UK10K COHORTS. CHARGE Consortium (Cohorts for Heart and Aging Research in Genomic Epidemiology) meeting, Rotterdam 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Dissemination of information.

NA
Year(s) Of Engagement Activity 2013
 
Description Participation in Human Library - Green Man festival - Gibran Hermani 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Gibran Hermani took part in a Human Library which is an engagement method that pushes for open dialogue around sensitive areas in scientific research. Using the subject of genetic data privacy he was able to talk to public members about donating their genome to research and opened up conversations around genetics research.
Year(s) Of Engagement Activity 2016
 
Description Poster presentation (Managing type 2 diabetes-associated cancer risk: the utility of gliflozin drugs in the treatment of colorectal cancer) Diabetes UK Professional Conference 2019, Liverpool, UK, 2019 (Caroline Bull) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Poster presented at Diabetes UK Professional Conference 2019, Liverpool, UK, 2019. This resulted in discussions with other scientists/professionals working in the pharmaceutical industry. Contact details were exchanged with AstraZeneca/Boehringer Ingelheim/Janssen medical reps who were interested in our findings.
Year(s) Of Engagement Activity 2019
 
Description Poster presentation (Molecular and epidemiological investigations of the association between statin use and advanced prostate cancer) Keystone Tumor Metabolism conference; Utah, USA, 2018.(Caroline Bull) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Poster presented at Keystone Tumor Metabolism conference; Utah, USA, 2018. This resulted in discussions with other scientists working in the field of metabolism, which aided the interpretation of research findings.
Year(s) Of Engagement Activity 2018
 
Description Poster presentation at: 2018 Metabolomics Conference, Seattle, US, 24-28 June 2018 (Laura Corbin) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Industry/Business
Results and Impact I presented a poster during a scheduled poster session. The session was open to the conferences 200 attendees. Around five people spoke to me directly about the work.
Year(s) Of Engagement Activity 2018
URL http://metabolomics2018.org/
 
Description Poster presentation at: MetaboMeeting 2018, Nottingham, UK, 17-19 December 2018 (Laura Corbin) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Industry/Business
Results and Impact I presented a poster during a scheduled poster session. The session was open to the conferences 200 attendees. Around five people spoke to me directly about the work.
Year(s) Of Engagement Activity 2014,2018
URL http://metabomeeting.thempf.org/
 
Description Poster presentation at: Metabolomics and Human Health Gordon Research Conference, Ventura, US, 3-8 February 2019 (Laura Corbin) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Industry/Business
Results and Impact I presented a poster during a scheduled poster session. The session was open to the conferences 200 attendees. Around five people spoke to me directly about the work.
Year(s) Of Engagement Activity 2019
URL https://www.grc.org/metabolomics-and-human-health-conference/2019/
 
Description Poster presentation entitled "Application of Mendelian randomization to assess the causal role of adiposity on vascular dysfunction in healthy adolescents" at the 65th American Society of Human Genetics in Baltimore, Maryland in 2015- Kaitlin Wade 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Policymakers/politicians
Results and Impact poster presentation entitled "Application of Mendelian randomization to assess the causal role of adiposity on vascular dysfunction in healthy adolescents" at the 65th American Society of Human Genetics in Baltimore, Maryland in 2015
Year(s) Of Engagement Activity 2015
 
Description Poster presentation entitled "Causal Estimation of the Nutritional and Environmental Contribution to Blood Pressure Regulation and Cardiovascular Disease: A Metagenomic Approach" - Kaitlin Wade 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Metagenomics: Managing, Analysing and Visualising Data course at the Sanger Institute in Cambridge 2013
Year(s) Of Engagement Activity 2013
 
Description Poster presentation entitled "Does L-Ascorbic Acid Decrease Blood Pressure and Hypertension Risk?- Kaitlin Wade 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Mendelian Randomization Using Genetic Variation at SLC23A1 in >17,000 Participants from 5 Independent Studies" at the 62nd American Society of Human Genetics in San Francisco, California in 2012
Year(s) Of Engagement Activity 2012
 
Description Poster presentation entitled "Longitudinal Blood Pressure Genetics" at the 63rd American Society of Human Genetics in Boston, Massachusetts in 2013- Kaitlin Wade 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Policymakers/politicians
Results and Impact poster presentation entitled "Longitudinal Blood Pressure Genetics" at the 63rd American Society of Human Genetics in Boston, Massachusetts in 2013
Year(s) Of Engagement Activity 2013
 
Description Poster presentation entitled "Longitudinal Blood Pressure Genetics" at the Integrative Epidemiology Unit launch (1st prize won) in 2014- Kaitlin Wade 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Poster presentation entitled "Longitudinal Blood Pressure Genetics" at the Integrative Epidemiology Unit launch (1st prize won) in 2014
Year(s) Of Engagement Activity 2014
 
Description Presentation to ALSPAC participant group - Kaitlin Wade 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Study participants or study members
Results and Impact Kaitlin Wade gives talk to ALSPAC participants to introduce her work and the general research that occurs at the IEU running a series of engagement activities. This allowed the participants to connect with the research they donate their data and samples to.
Year(s) Of Engagement Activity 2016
 
Description Probing causality with genetic association: Can studies of genomic variation have any impact? International Gene Forum 2013 (Estonian Genome Foundation); "Future Medicine". Tartu, Estonia 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Dissemination of information, questions and discussion.

NA
Year(s) Of Engagement Activity 2013
 
Description Recall by Genotype leaflet for ALSPAC participants (Feb 2016) (Laura Corbin) 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Study participants or study members
Results and Impact 3. I developed an information leaflet about recall-by-genotype studies to be used to inform ALSPAC study participants about this type of study.
Year(s) Of Engagement Activity 2016
URL http://www.bris.ac.uk/alspac/external/leaflets/Recall-by-genotype%20leafet.pdf
 
Description School Short course tutorial (George McMahon) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Postgraduate students
Results and Impact Tuition on genetic imputation on the School of Social and Community Medicine short course for Genetic epidemiology. Attended by above 40 students from the school, University of Bristol and outside research organizations. This helps establish the School as a research leader in this area where it is able to disseminate its expertise effectively.
Year(s) Of Engagement Activity 2012,2015,2016
 
Description School visit (London)- Kayleigh Easey 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Schools
Results and Impact A school visit of children wanting to attend university and deciding on where to study.
Year(s) Of Engagement Activity 2018
 
Description School visits (many) Matthew Lee 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact a. Presentations, talks, workshops to communicate research and ALSPAC
Year(s) Of Engagement Activity 2018
 
Description Showering Lecture 2018-at the Soutmead Hospital Campus, Bristol and the University of Bristol - ALSPAC/Children of the 90s - the world leading, research ready, multi-generation birth cohort that's under your nose. - 25th May 2018 (Nic Timpson) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Showering Lecture 2018-at the Soutmead Hospital Campus, Bristol and the University of Bristol - ALSPAC/Children of the 90s - the world leading, research ready, multi-generation birth cohort that's under your nose. - 25th May 2018 (Nic Timpson)
Year(s) Of Engagement Activity 2018
 
Description Summer student placement - INSPIRE scheme (The Academy of Medical Sciences) - student placement funding and residential project. 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Undergraduate students
Results and Impact The INSPIRE scheme delivers competitive grant funding to support medical schools across the country deliver locally designed activities aimed at informing and exciting both medical and dental students about the benefits and potential of a career in research. In the summer of 2016, I took on an undergraduate student who joined our lab and undertook a research project concerning coronary artery disease (CAD) genetics. This project aims to take the most up to date genetic information available, found through analysis of the CARDIoGRAMplusC4D Consortium, and conduct a correlation study with metabolite profiles obtained from the Avon Longitudinal Study of Parents and Children (ALSPAC) study. Through serum nuclear magnetic resonance technology, data on 225 metabolites were obtained at ages 7, 15 and 17, which includes information on subtypes of LDL, HDL and triglycerides, which are known to be risk factors for CAD. The research project looked to see if there is an association between these genetic loci and metabolite profile in young participants who are ostensibly healthy.
Year(s) Of Engagement Activity 2016
 
Description Teacher training (Education Centre at the University of Bristol) talk re. genes and education 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact The PGCE teacher training course providing further information for school-based science mentors.

Dissemination of information, questions and discussion
Year(s) Of Engagement Activity 2014
 
Description The American Society of Human Genetics (ASHG) annual meeting; San Francisco, USA November 2012- Rebecca Richmond 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Poster presentation
Year(s) Of Engagement Activity 2012
 
Description The Impact of Genomics on Public Health course; Cardiff, UK, April 2013 - Rebecca Richmond 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Poster at Conference
Year(s) Of Engagement Activity 2013
 
Description The human gut microbiome and obesity - causal or confounded companionship?- Kaitlin Wade 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact I had a poster presentation at the American Society of Human Genetics in San Diego, 2018.
Year(s) Of Engagement Activity 2018
 
Description The human gut microbiome and obesity - causal or confounded companionship?- Kaitlin Wade 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact I had a poster presentation at the Exploring Human Host-Microbiome Interactions in Health and Disease conference at the Wellcome Genome Campus, 2018.
Year(s) Of Engagement Activity 2018
URL https://coursesandconferences.wellcomegenomecampus.org/wp-content/uploads/2018/11/Exploring-Human-Ho...
 
Description The incorporation of whole genome sequence data into population level science: The UK10K project. 3rd Next Generation Sequencing Symposium, University of Southampton 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Dissemination of information, questions and discussion.

NA
Year(s) Of Engagement Activity 2013
 
Description UK DNA shared in worldwide search for genetic causes of disease 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact There was an article in the Guardian after the uk10k paper was published.
Year(s) Of Engagement Activity 2015
URL https://www.theguardian.com/science/2015/sep/14/uk-dna-shared-in-worldwide-search-for-genetic-causes...
 
Description University of Oulu - 26th November - Mendelian randomisation and the optimal use of longitudinal study designs (Nic Timpson) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact - University of Oulu - 26th November - Mendelian randomisation and the optimal use of longitudinal study designs.
Year(s) Of Engagement Activity 2018
 
Description Unravelling DNA: What can research tell us about the role of genetics in our lives? KBL School, Wooton, 2015 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact This was a local schools visit where I was asked to present issues of research and development (focused on genetics) to 6th form students as part of their a-level calendar.
Year(s) Of Engagement Activity 2015
 
Description Visit from collaborators at Sanofi to our department in Bristol, UK. and a return visit in Framingham, USA. (Tom Richardson) 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Industry/Business
Results and Impact We had two exchanges with collaborators from Sanofi this year, the first took place in Bristol, UK in July and the other in Framingham, USA in October. During these exchanges we discussed for a day of presentations and discussion. This helped us to develop our working relationship, as well as discuss progress on current research and future projects.
Year(s) Of Engagement Activity 2016
 
Description Welsh Gene park coordinated- genetics talk at school in Royal High School Bath 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact Schools lecture for a-level students based on the genetics of obesity, but more generally on the role of genetics in research and health.

NA
Year(s) Of Engagement Activity 2013
 
Description What is special about genetic epidemiology - why have we got away with being so lazy?! Part of the 10th "SNPs and Human Disease" teaching course at the Erasmus MC. Population Genomics of Complex Traits Symposium 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Dissemination of information.

NA
Year(s) Of Engagement Activity 2013
 
Description What is the utility of population based science for drug discovery? 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Industry/Business
Results and Impact What is the utility of population based science for drug discovery? Sanofi/Genzyme Framingham campus. USA, Oct 2016.
Year(s) Of Engagement Activity 2016
 
Description Witwatersrand Genetics Short Course December 2014 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact 4-day teaching course on genomewide genetic data analysis - all material and exercises prepared by Nic Timpson and Gib Hamani. Lectures, debates, exercises and coding/test data sets prepared, delivered and left for the purposes of dissemination of method at Witwatersrand University, Johannesburg.
Year(s) Of Engagement Activity 2014
 
Description oral presentation entitled "Removing the Bias: Mendelian randomization in Epidemiology" at the UKMEG Winter Meeting at Newcastle University in December 2013- Kaitlin Wade 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Policymakers/politicians
Results and Impact oral presentation entitled "Removing the Bias: Mendelian randomization in Epidemiology" at the UKMEG Winter Meeting at Newcastle University in December 2013
Year(s) Of Engagement Activity 2013