Translating genome-wide association data from the WTCCC study into biological and clinical insights in type 2 diabetes

Lead Research Organisation: University of Oxford
Department Name: RDM OCDEM

Abstract

Diabetes is a major and growing cause of disease and death in the UK and beyond. Most diabetes arising after early adulthood is due to ?type 2 diabetes?: almost 10 percent of the world?s population either has this condition or will develop it during their lifetime. Despite this global importance, understanding of the processes which lead to development of type 2 diabetes is far from complete, and much needs to be done to develop more effective approaches to prevention and treatment.

One of the most promising routes to a better understanding of diabetes comes from identifying the genes which influence an individual?s predisposition to develop the disease. In recent years, there have been some promising developments and several such genes have been identified. More recently, through advances in knowledge and technology that have followed the sequencing of the human genome, it has become possible to search for such genes in a systematic and ?genomewide? fashion. The applicants on this proposal are currently completing such a ?genomewide association? study (the largest yet conducted into the genetics of diabetes). Analysis of the experimental data will commence shortly and will provide initial clues to the locations of many novel diabetes genes. However, a great deal of work will still be required to separate real effects from spurious findings due to chance or error, and to establish beyond doubt the identities of the genes involved. This work, which involves studying a further 50,000 DNA samples, occupies the first part of our research proposal.

With such a set of confirmed diabetes-susceptibility signals in hand, we aim to translate these discoveries into an improved understanding of the biology of diabetes. We will do this in various ways: for instance, by studying how these genes interact with environmental factors (poor diet, lack of exercise) to influence risk of diabetes. Finally, we want to see whether it is practical to use this genetic information to improve the treatment and prevention of diabetes. We will ask whether the genetic differences we have identified will allow us to predict how likely it is that a given individual will develop diabetes and which treatments may be particularly beneficial.

The work will be performed by groups in Oxford, Exeter and Dundee who have spent the last decade working together to understand the causes of type 2 diabetes. The funding requested will enable them to make major strides towards this goal.

Technical Summary

Recent advances in the understanding of human genome sequence variation, allied to advances in genotyping technology and availability of large well-characterized clinical samples have reinvigorated efforts to identify the variants influencing susceptibility to type 2 diabetes (T2D). The Wellcome Trust Case Control Consortium is the largest genome-wide association study currently in progress worldwide and genotyping of 2000 T2D cases and 3000 UK controls on the 500k Affymetrix platform will be complete by October 2006. The current proposal outlines our plans to follow-up the findings of this unprecedented study of T2D genetics using the extensive clinical resources available to the applicants and their collaborators. We plan to:

(a) perform extensive validation and replication studies to ensure robust identification of the principal common T2D-susceptibility SNPs against the background of type 1 error and undetected bias. Key to this exercise are plans for combined analysis of all available dense-map T2D genome-wide association data (~5500 cases, 6500 controls from 4 groups) in early 2007 through the IGWANA consortium. We will take the 1500 variants with the most compelling association signals from this combined analysis through successive rounds of validation and replication involving up to 50,000 samples. As we show, this design provides excellent power to retrieve the majority of common SNP-based variants with modest or large T2D-susceptibility effects with negligibly low false positive report probabilities;

(b) identify the variants driving each association signal (through fine-mapping, resequencing, and assays of copy number variation);

(c) translate these findings into insights into the epidemiology, physiology, genetic architecture and biology of T2D, in studies of over 100,000 samples available to the applicants and their collaborators;

(d) evaluate the potential for the application of the findings to the clinical management of diabetes. A key resource will be the Wellcome-Trust-funded Dundee-based UK Type 2 Diabetes Genetics Consortium Case-Control Collection which provides substantial health-related outcome data on over 7000 diabetic cases within the UK?s most-advanced record linkage system.

The applicants have a strong track-record in the successful implementation of large-scale genetic studies. They have pioneered large-scale association studies in T2D, have responsibility for the T2D component of the WTCCC and are playing a leading role in several major international genetics consortia. They are uniquely-placed to deliver insights into the pathogenesis of T2D, and to initiate the task of translating those findings into advances in clinical care.

Organisations

Publications

10 25 50

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Prokopenko I (2008) Type 2 diabetes: new genes, new understanding. in Trends in genetics : TIG

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Prokopenko I (2009) Variants in MTNR1B influence fasting glucose levels. in Nature genetics

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GoDARTS And UKPDS Diabetes Pharmacogenetics Study Group (2011) Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. in Nature genetics

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Jaiswal S (2014) Age-related clonal hematopoiesis associated with adverse outcomes. in The New England journal of medicine

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DIAbetes Genetics Replication And Meta-Analysis (DIAGRAM) Consortium (2014) Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. in Nature genetics

 
Description Chief Medical Officers Genomics Advisory Committee
Geographic Reach National 
Policy Influence Type Participation in a advisory committee
 
Description Genome Quebec Advisory Board
Geographic Reach North America 
Policy Influence Type Participation in a advisory committee
 
Description House of Lords Enquiry into genetic Medicine
Geographic Reach National 
Policy Influence Type Gave evidence to a government review
 
Description Human Genetics Commission
Geographic Reach National 
Policy Influence Type Participation in a national consultation
 
Description NIH Target Validation Committee (Diabetes)
Geographic Reach North America 
Policy Influence Type Participation in a national consultation
Impact Designing private-public partnership between NIH and pharma to develop Target Validation Consortium
 
Description Topol Review into NHS WOrkforce Strategy (Co-Chair Genomics Panel)
Geographic Reach National 
Policy Influence Type Gave evidence to a government review
 
Description extensive citation of our work in clinical reviews
Geographic Reach Multiple continents/international 
Policy Influence Type Citation in clinical reviews
 
Description CEED3 Collaborative European effort to develop diabetes diagnostics (3m euros across 12 participants)
Amount £205,000 (GBP)
Funding ID 223211 
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 01/2008 
End 12/2012
 
Description Diabetes UK project grant
Amount £142,000 (GBP)
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 02/2008 
End 01/2010
 
Description Diabetes UK, Clinical Training Fellowship
Amount £129,000 (GBP)
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2008 
End 01/2010
 
Description Diabetes UK, Project Grant
Amount £178,000 (GBP)
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2009 
End 12/2010
 
Description Diabetes UK, Project Grant Using human genetics to understand the role of adiponectin in type 2 diabetes and insulin resistance.
Amount £214,000 (GBP)
Funding ID 12/0004470 
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2009 
End 09/2012
 
Description Diabetes and Wellness Foundation fellowship for Jessica Tyrrell
Amount £172,389 (GBP)
Organisation The Diabetes Research & Wellness Foundation 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2015 
End 12/2017
 
Description ENGAGE European network for genetic and genomic epidemiology (12m euros across 26 participants)
Amount £378,462 (GBP)
Funding ID 201413 
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 01/2008 
End 12/2012
 
Description EPI-MIGRANT Identification of epigenetic markers underlying increased risk of T2D in South Asians (3m euros across 12 participants)
Amount £217,000 (GBP)
Funding ID 279143 
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 01/2012 
End 12/2014
 
Description EU Innovative Medicines Initiative DIRECT project (40m euros across 20 participants)
Amount £1,600,000 (GBP)
Funding ID 115317 
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 01/2012 
End 12/2018
 
Description Grand opportunity grants
Amount £14,000,000 (GBP)
Organisation National Institutes of Health (NIH) 
Sector Public
Country United States
Start 10/2009 
End 09/2012
 
Description Henry Wellcome Fellowships
Amount £250,000 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 06/2008 
End 06/2012
 
Description Innovative Medicines Initiative (StemBANCC)
Amount € 53,000,000 (EUR)
Funding ID 115439 
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 10/2012 
End 09/2018
 
Description Innovative Medicines Initiative BEATDKD
Amount € 15,000,000 (EUR)
Funding ID BEATDKD 
Organisation European Commission 
Department Innovative Medicines Initiative (IMI)
Sector Multiple
Country European Union (EU)
Start 09/2017 
End 08/2022
 
Description Innovative Medicines Initiative RHAPSODY
Amount € 8,000,000 (EUR)
Funding ID 115881 
Organisation European Commission 
Department Innovative Medicines Initiative (IMI)
Sector Multiple
Country European Union (EU)
Start 04/2016 
End 03/2020
 
Description JDRF Special Award
Amount $400,000 (USD)
Organisation Juvenile Diabetes Research Foundation (JDRF) 
Sector Charity/Non Profit
Country United Kingdom
Start 08/2014 
End 10/2015
 
Description MRC CASE
Amount £98,000 (GBP)
Funding ID MR/P016065/1 
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 09/2017 
End 08/2021
 
Description MRC Clinical Training Fellowship
Amount £212,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 01/2008 
End 01/2011
 
Description MRC Project Grant
Amount £502,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 09/2014 
End 08/2018
 
Description MRC Project Grant (KlF14)
Amount £700,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 09/2012 
End 02/2015
 
Description MRC Using genetics to understand sleep and chronotype and their relationship to obesity and type 2 diabetes.
Amount £401,000 (GBP)
Funding ID MR/P012167/1 
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 02/2017 
End 01/2019
 
Description NIH R01
Amount $2,400,000 (USD)
Funding ID DK098032 
Organisation National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) 
Sector Public
Country United States
Start 09/2012 
End 08/2016
 
Description NIH R01
Amount $1,900,000 (USD)
Funding ID MH101814 
Organisation National Institutes of Health (NIH) 
Department National Institute of Mental Health (NIMH)
Sector Public
Country United States
Start 09/2013 
End 08/2016
 
Description NovoNordisk Funden Immunometabolism
Amount kr 12,000,000 (DKK)
Funding ID TRiiC 
Organisation Novo Nordisk Foundation 
Sector Charity/Non Profit
Country Denmark
Start 05/2016 
End 04/2020
 
Description Program grant
Amount £1,700,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 02/2015 
End 01/2018
 
Description Project Grant
Amount £129,000 (GBP)
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 03/2010 
End 02/2012
 
Description SUMMIT SUrrogate markers for Micro- and Macro-vascular hard endpoints for Innovative diabetes Tools (28.4m euros across 23 participants)
Amount £400,000 (GBP)
Funding ID 115006 
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 11/2009 
End 10/2015
 
Description Studentship
Amount £72,000 (GBP)
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2010 
End 12/2013
 
Description U01
Amount $1,800,000 (USD)
Funding ID DK105535 
Organisation National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) 
Sector Public
Country United States
Start 04/2015 
End 03/2019
 
Description U01 award
Amount £1,500,000 (GBP)
Organisation National Institutes of Health (NIH) 
Sector Public
Country United States
Start 09/2009 
End 07/2015
 
Description Wellcome Career Development Fellowship
Amount £791,000 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 04/2009 
End 03/2015
 
Description Wellcome Investigator Award
Amount £2,250,000 (GBP)
Funding ID 212259/Z/18/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 11/2018 
End 10/2024
 
Description Wellcome Strategic Award
Amount £16,006,928 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 06/2008 
End 05/2011
 
Description Wellcome Strategic Award (Next-Generation Disease Association Analyses: Low pass Sequencing and High Density SNP genotyping for type 2 diabetes)
Amount £2,592,923 (GBP)
Funding ID 090367 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2009 
End 06/2013
 
Description Wellcome Trust Henry Dale award to Rachel Freathy
Amount £800,000 (GBP)
Funding ID 104150/Z/14/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2015 
End 01/2021
 
Description Wellcome Trust Project GRant
Amount £868,000 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 06/2008 
End 05/2012
 
Description Wellcome Trust Project Grant
Amount £440,000 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2008 
End 07/2011
 
Description Wellcome Trust Senior Investigator Award
Amount £1,500,000 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2012 
End 09/2017
 
Title Exome chip design 
Description Contributed to design of Illumina and Affymetrix exome arrays - total sales value of products ~$100,000,000 to date. 
Type Of Material Technology assay or reagent 
Year Produced 2011 
Provided To Others? Yes  
Impact Used to support design of commercial arrays 
 
Title Genome wide meta-analysis data sets 
Description We have contirbuted in many international consortia to the development of combined data sets (e.g. GIANT - 150,000 samples with genome wide association data) that provide powerful tools for exploration of the genetics of common disease 
Type Of Material Biological samples 
Year Produced 2007 
Provided To Others? Yes  
Impact See publication list e.g. ~10 papers in high impact journals in the past couple of years or so 
 
Title Genome wide meta-analysis infrastructure 
Description Through the MRC grant, as well as many of our other funded grants, we have contributed to the development of methodology (and in several cases software - though the software was developed under other funding) to support these studies. 
Type Of Material Improvements to research infrastructure 
Year Produced 2008 
Provided To Others? Yes  
Impact See publications 
 
Title High density arrays 
Description We were involved in design and testing of the new Illumina Omni2.5M array 
Type Of Material Technology assay or reagent 
Year Produced 2010 
Provided To Others? Yes  
Impact Commercialised by Illumina. 
 
Title Metabochip 
Description Custom iSELECT array for fine mapping and replication of cardiometabolic traits 
Type Of Material Technology assay or reagent 
Year Produced 2009 
Provided To Others? Yes  
Impact Has been typed on over 200,000 samples so far - publications emerging in coming months 
 
Title DIabetes Knowledge Portal 
Description Knowledge portal containing diverse T2D genetic data contributed by multiple groups. In beta-testing. Soft launch early 2015 
Type Of Material Database/Collection of data 
Year Produced 2014 
Provided To Others? Yes  
Impact HAs attracted attention from pharma contribting to development of Accelerating Medicines Partnership between NIH and pharma in the US, now funidng further development of this portal 
 
Title UK exome array 
Description Exome array data at both summary and individual data level. Former widely available, latter via EGA 
Type Of Material Database/Collection of data 
Year Produced 2013 
Provided To Others? Yes  
Impact Has contributed to several publications from diverse groups 
 
Description CEED3 
Organisation University of Exeter
Country United Kingdom 
Sector Academic/University 
PI Contribution I am on the steering committee and lead aspects of one work package.
Collaborator Contribution This supports large-scale data integration and has led to high profile publications and ongoing high profile research.
Impact This supports large-scale data integration relevant to diabetes diagnostics and has led to high profile publications and ongoing high profile research.
Start Year 2008
 
Description CHARGE, T2DGENES, PROMIS exome array 
Organisation University of California, Los Angeles (UCLA)
Department School of Medicine UCLA
Country United States 
Sector Academic/University 
PI Contribution WE are collaborating to bring together exome chip data on ~250000 individuals with/without T2D. We bring data from DIAGRAM/T2DGENES
Collaborator Contribution Other groups are bringing data from CHARGE and PROMIS
Impact No outputs as yet
Start Year 2014
 
Description CHARGE, T2DGENES, PROMIS exome array 
Organisation University of Pennsylvania
Department Perelman School of Medicine
Country United States 
Sector Academic/University 
PI Contribution WE are collaborating to bring together exome chip data on ~250000 individuals with/without T2D. We bring data from DIAGRAM/T2DGENES
Collaborator Contribution Other groups are bringing data from CHARGE and PROMIS
Impact No outputs as yet
Start Year 2014
 
Description DIAGRAM (Diabetes Replication and Meta-analysis) consortium 
Organisation Broad Institute
Country United States 
Sector Charity/Non Profit 
PI Contribution My group leads this international effort.
Collaborator Contribution This is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activity
Impact In published work, we have identified ~12 novel T2D susceptibility genes, and in unpublished work (currently submitted or in press) a further 20 or so. This consortium leads international efforts to understand T2D genetics 18372903 19060907 Dupuis et al, NG, in press Other outputs (not directly attributed to MRC funding) 19252133 19526209 18591388 18853133 19056611 19933169. The consortium is now (Oct 2011) preparing publications related to our activities with the metabochip, and on imputation from 1000Genomes into large GWA datasets.
Start Year 2007
 
Description DIAGRAM (Diabetes Replication and Meta-analysis) consortium 
Organisation Erasmus University Medical Center
Country Netherlands 
Sector Academic/University 
PI Contribution My group leads this international effort.
Collaborator Contribution This is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activity
Impact In published work, we have identified ~12 novel T2D susceptibility genes, and in unpublished work (currently submitted or in press) a further 20 or so. This consortium leads international efforts to understand T2D genetics 18372903 19060907 Dupuis et al, NG, in press Other outputs (not directly attributed to MRC funding) 19252133 19526209 18591388 18853133 19056611 19933169. The consortium is now (Oct 2011) preparing publications related to our activities with the metabochip, and on imputation from 1000Genomes into large GWA datasets.
Start Year 2007
 
Description DIAGRAM (Diabetes Replication and Meta-analysis) consortium 
Organisation Helmholtz Association of German Research Centres
Country Germany 
Sector Public 
PI Contribution My group leads this international effort.
Collaborator Contribution This is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activity
Impact In published work, we have identified ~12 novel T2D susceptibility genes, and in unpublished work (currently submitted or in press) a further 20 or so. This consortium leads international efforts to understand T2D genetics 18372903 19060907 Dupuis et al, NG, in press Other outputs (not directly attributed to MRC funding) 19252133 19526209 18591388 18853133 19056611 19933169. The consortium is now (Oct 2011) preparing publications related to our activities with the metabochip, and on imputation from 1000Genomes into large GWA datasets.
Start Year 2007
 
Description DIAGRAM (Diabetes Replication and Meta-analysis) consortium 
Organisation Imperial College London
Country United Kingdom 
Sector Academic/University 
PI Contribution My group leads this international effort.
Collaborator Contribution This is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activity
Impact In published work, we have identified ~12 novel T2D susceptibility genes, and in unpublished work (currently submitted or in press) a further 20 or so. This consortium leads international efforts to understand T2D genetics 18372903 19060907 Dupuis et al, NG, in press Other outputs (not directly attributed to MRC funding) 19252133 19526209 18591388 18853133 19056611 19933169. The consortium is now (Oct 2011) preparing publications related to our activities with the metabochip, and on imputation from 1000Genomes into large GWA datasets.
Start Year 2007
 
Description DIAGRAM (Diabetes Replication and Meta-analysis) consortium 
Organisation McGill University
Country Canada 
Sector Academic/University 
PI Contribution My group leads this international effort.
Collaborator Contribution This is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activity
Impact In published work, we have identified ~12 novel T2D susceptibility genes, and in unpublished work (currently submitted or in press) a further 20 or so. This consortium leads international efforts to understand T2D genetics 18372903 19060907 Dupuis et al, NG, in press Other outputs (not directly attributed to MRC funding) 19252133 19526209 18591388 18853133 19056611 19933169. The consortium is now (Oct 2011) preparing publications related to our activities with the metabochip, and on imputation from 1000Genomes into large GWA datasets.
Start Year 2007
 
Description DIAGRAM (Diabetes Replication and Meta-analysis) consortium 
Organisation University of Michigan
Country United States 
Sector Academic/University 
PI Contribution My group leads this international effort.
Collaborator Contribution This is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activity
Impact In published work, we have identified ~12 novel T2D susceptibility genes, and in unpublished work (currently submitted or in press) a further 20 or so. This consortium leads international efforts to understand T2D genetics 18372903 19060907 Dupuis et al, NG, in press Other outputs (not directly attributed to MRC funding) 19252133 19526209 18591388 18853133 19056611 19933169. The consortium is now (Oct 2011) preparing publications related to our activities with the metabochip, and on imputation from 1000Genomes into large GWA datasets.
Start Year 2007
 
Description DIAGRAM (Diabetes Replication and Meta-analysis) consortium 
Organisation deCODE genetics
Country Iceland 
Sector Private 
PI Contribution My group leads this international effort.
Collaborator Contribution This is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international collaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activityThis is a large international colaboration that has enabled large-scale association studies in T2D resulting in several publications and ongoing high profile research activity
Impact In published work, we have identified ~12 novel T2D susceptibility genes, and in unpublished work (currently submitted or in press) a further 20 or so. This consortium leads international efforts to understand T2D genetics 18372903 19060907 Dupuis et al, NG, in press Other outputs (not directly attributed to MRC funding) 19252133 19526209 18591388 18853133 19056611 19933169. The consortium is now (Oct 2011) preparing publications related to our activities with the metabochip, and on imputation from 1000Genomes into large GWA datasets.
Start Year 2007
 
Description DIRECT 
Organisation Eli Lilly & Company Ltd
Country United Kingdom 
Sector Private 
PI Contribution This EU IMI grant is worth about €45M. I was part of the writing committee for the final proposal and will lead on one of the major workpackages. The grant officially kicks off in 2012 but the collaboration started in 2010
Collaborator Contribution Integrates our genetic and genomic appproaches with clinical resources to identify biomarkers able to support stratified medicine for T2D
Impact Success in obtaining approx 45M€ total funding (from the IMI and from pharma) for the DIRECT program of research from 2012 - 2018
Start Year 2010
 
Description DIRECT 
Organisation Novo Nordisk
Country Denmark 
Sector Public 
PI Contribution This EU IMI grant is worth about €45M. I was part of the writing committee for the final proposal and will lead on one of the major workpackages. The grant officially kicks off in 2012 but the collaboration started in 2010
Collaborator Contribution Integrates our genetic and genomic appproaches with clinical resources to identify biomarkers able to support stratified medicine for T2D
Impact Success in obtaining approx 45M€ total funding (from the IMI and from pharma) for the DIRECT program of research from 2012 - 2018
Start Year 2010
 
Description DIRECT 
Organisation Sanofi
Department Aventis
Country France 
Sector Private 
PI Contribution This EU IMI grant is worth about €45M. I was part of the writing committee for the final proposal and will lead on one of the major workpackages. The grant officially kicks off in 2012 but the collaboration started in 2010
Collaborator Contribution Integrates our genetic and genomic appproaches with clinical resources to identify biomarkers able to support stratified medicine for T2D
Impact Success in obtaining approx 45M€ total funding (from the IMI and from pharma) for the DIRECT program of research from 2012 - 2018
Start Year 2010
 
Description DIRECT 
Organisation Servier Laboratories
Country France 
Sector Private 
PI Contribution This EU IMI grant is worth about €45M. I was part of the writing committee for the final proposal and will lead on one of the major workpackages. The grant officially kicks off in 2012 but the collaboration started in 2010
Collaborator Contribution Integrates our genetic and genomic appproaches with clinical resources to identify biomarkers able to support stratified medicine for T2D
Impact Success in obtaining approx 45M€ total funding (from the IMI and from pharma) for the DIRECT program of research from 2012 - 2018
Start Year 2010
 
Description DIRECT 
Organisation University of Dundee
Department Biomedical Research Institute
Country United Kingdom 
Sector Academic/University 
PI Contribution This EU IMI grant is worth about €45M. I was part of the writing committee for the final proposal and will lead on one of the major workpackages. The grant officially kicks off in 2012 but the collaboration started in 2010
Collaborator Contribution Integrates our genetic and genomic appproaches with clinical resources to identify biomarkers able to support stratified medicine for T2D
Impact Success in obtaining approx 45M€ total funding (from the IMI and from pharma) for the DIRECT program of research from 2012 - 2018
Start Year 2010
 
Description DOLORISK 
Organisation University of Dundee
Country United Kingdom 
Sector Academic/University 
PI Contribution WE are responsible for the genetics WP of this H2020 consortium
Collaborator Contribution Dundee (and other partners not listed) have provided samples for us to GWAS
Impact Still in progress
Start Year 2016
 
Description EGG (Early Growth Genetics) consortium 
Organisation University of Bristol
Country United Kingdom 
Sector Academic/University 
PI Contribution We lead this effort which has so far netted the first common variants influencing birth weight and promises to result in insights into other early growth phenotypes
Collaborator Contribution This is a large international colaboration that has enabled large-scale association studies in early growth genetics resulting in several publications and ongoing high profile research activity
Impact This is a large international colaboration that has enabled large-scale association studies in early growth genetics resulting in several publications and ongoing high profile research activity. We published on BW in Nature Genetics in 2010, and there are ~10 further high profile publications under review or in preparation from the wider consortium relating the genetic basis of many early growth phenotypes.
Start Year 2008
 
Description ENGAGE (European Network for Genetic and Genomic Epidemiology) 
Organisation The Wellcome Trust Sanger Institute
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution I co-lead this effort with Leena Peltonen of the SAnger,and following her death am the coordinator. It is funded by the EU (FP7)
Collaborator Contribution This supports large-scale data integration and has led to high profile publications and ongoing high profile research.
Impact This supports large-scale data integration and has led to high profile publications and ongoing high profile research. Work arising has not had direct MRC funding but includes 19060911 19503597 19060910
Start Year 2008
 
Description EpiMIGRANT 
Organisation Imperial College London
Department School of Public Health
Country United Kingdom 
Sector Academic/University 
PI Contribution I am part of the leadership team for the EU award and wil lead one of the WPs
Collaborator Contribution Will enable large-scale epigenetic analysis of South Asians with and without T2D.Epigenomics of T2D in South AsiansEpugenomics of T2D in south Asians
Impact The project starts in 2012.
Start Year 2010
 
Description EpiMIGRANT 
Organisation International Diabetes Institute (IDI)
Country Australia 
Sector Academic/University 
PI Contribution I am part of the leadership team for the EU award and wil lead one of the WPs
Collaborator Contribution Will enable large-scale epigenetic analysis of South Asians with and without T2D.Epigenomics of T2D in South AsiansEpugenomics of T2D in south Asians
Impact The project starts in 2012.
Start Year 2010
 
Description EpiMIGRANT 
Organisation University of Cambridge
Department Strangeways Research Laboratory
Country United Kingdom 
Sector Academic/University 
PI Contribution I am part of the leadership team for the EU award and wil lead one of the WPs
Collaborator Contribution Will enable large-scale epigenetic analysis of South Asians with and without T2D.Epigenomics of T2D in South AsiansEpugenomics of T2D in south Asians
Impact The project starts in 2012.
Start Year 2010
 
Description GIANT (Genetic Investigation of Anthropometric Traits) Consortium 
Organisation Harvard University
Country United States 
Sector Academic/University 
PI Contribution We co-lead this effort, contributing data and analysis and expertise to the study of the genetics of height, BMI and central obesity phenotypes.
Collaborator Contribution This is a large international colaboration that has enabled large-scale association studies in anthropometric traits resulting in several publications and ongoing high profile research activity
Impact This is a large international colaboration that has enabled large-scale association studies in anthropometric traits resulting in several publications and ongoing high profile research activity 18454148 19079261 OTher outputs (not directly funded by MRC) but arising from the partnership 17767157 18346983 18391952 18842783 19005641 19557161
Start Year 2007
 
Description GTEX 
Organisation Center for Human Genetic Research; Broad Institute
Country United States 
Sector Academic/University 
PI Contribution I lead one component of the analytical research related ot the GTEX project, as part of a recurrent R01 award held by PI Dermitzakis
Collaborator Contribution We have contributed analyses relating expresison data to GWAS signals
Impact Several papers emerging including 24037378
Start Year 2009
 
Description GTEX 
Organisation Stanford University
Country United States 
Sector Academic/University 
PI Contribution I lead one component of the analytical research related ot the GTEX project, as part of a recurrent R01 award held by PI Dermitzakis
Collaborator Contribution We have contributed analyses relating expresison data to GWAS signals
Impact Several papers emerging including 24037378
Start Year 2009
 
Description GTEX 
Organisation University of Geneva
Country Switzerland 
Sector Academic/University 
PI Contribution I lead one component of the analytical research related ot the GTEX project, as part of a recurrent R01 award held by PI Dermitzakis
Collaborator Contribution We have contributed analyses relating expresison data to GWAS signals
Impact Several papers emerging including 24037378
Start Year 2009
 
Description Genetics of Type 2 diabetes (GoT2D) 
Organisation Broad Institute
Department Medical and Population Genetics Program
Country United States 
Sector Academic/University 
PI Contribution Oxford is jointly responsible for this high profile project funded to a total of $20M by the NIH, another $10M by NHGRI and £2.5M by the Wellcome Trust. We are undertaking whole genome sequencing of 650 individuals
Collaborator Contribution We are jointly responsible for the largest study in type 2 diabetes genetics currently ongoing - including whole genome sequencing of 2650 individuals. see under Broad
Impact Multidiscipinary - genetics, genomics, statistics, informatics. Data generation at present. High profile publications expected in due course. We have (Oct 2011) almost completed data generation (~2850 samples with whole genome, whole exome and dense genotype data) and proceeding to analysis
Start Year 2009
 
Description Genetics of Type 2 diabetes (GoT2D) 
Organisation University of Michigan
Department University of Michigan Medical School
Country United States 
Sector Academic/University 
PI Contribution Oxford is jointly responsible for this high profile project funded to a total of $20M by the NIH, another $10M by NHGRI and £2.5M by the Wellcome Trust. We are undertaking whole genome sequencing of 650 individuals
Collaborator Contribution We are jointly responsible for the largest study in type 2 diabetes genetics currently ongoing - including whole genome sequencing of 2650 individuals. see under Broad
Impact Multidiscipinary - genetics, genomics, statistics, informatics. Data generation at present. High profile publications expected in due course. We have (Oct 2011) almost completed data generation (~2850 samples with whole genome, whole exome and dense genotype data) and proceeding to analysis
Start Year 2009
 
Description H3Africa 
Organisation The Wellcome Trust Sanger Institute
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution I am part of the H3A funded project on diabetes in Africa.
Collaborator Contribution We have designed and are now implementing a large collection of T2D cases and controls in Africa
Impact None as yet
Start Year 2010
 
Description H3Africa 
Organisation University of Cape Town
Country South Africa 
Sector Academic/University 
PI Contribution I am part of the H3A funded project on diabetes in Africa.
Collaborator Contribution We have designed and are now implementing a large collection of T2D cases and controls in Africa
Impact None as yet
Start Year 2010
 
Description H3Africa 
Organisation University of KwaZulu-Natal
Country South Africa 
Sector Academic/University 
PI Contribution I am part of the H3A funded project on diabetes in Africa.
Collaborator Contribution We have designed and are now implementing a large collection of T2D cases and controls in Africa
Impact None as yet
Start Year 2010
 
Description MAGIC (Meta-analysis of Glycaemic and Insulin related traits) Consortium 
Organisation The Wellcome Trust Sanger Institute
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution We co-lead this collaboration of over 70 groups worldwide (it is impractical for me to enter the details in this form) working on the genetic basis of glycemic traits.
Collaborator Contribution This is a large international colaboration that has enabled large-scale association studies in continuous glycemic traits resulting in several publications and ongoing high profile research activity
Impact This group has identified ~20 genome wide significant signals influencing continuous glycemic traits, a subset of which also influence T2D risk. This has resulted in a number of high profile publications (qv). 19060907 Dupuis et al, NG, 2010. Further publications have arisen over the past few years, and a new batch of publications is currently (Oct 2011) being prepared related to metabochip data.
Start Year 2008
 
Description METABOCHIP consortium 
Organisation University of Michigan
Country United States 
Sector Academic/University 
PI Contribution We co-lead this effort.
Collaborator Contribution This is a large international colaboration that has designed a chip to enable largescale replication and fine mapping of several cardiovascular and metabolic traits. The typing and analysis of these data are ongoing.
Impact This is a large international colaboration that has designed a chip to enable largescale replication and fine mapping of several cardiovascular and metabolic traits. The typing and analysis of these data are ongoing.
Start Year 2008
 
Description Mendelian Randomisation to help identify potential adverse effects of drug treatments 
Organisation GlaxoSmithKline (GSK)
Country Global 
Sector Private 
PI Contribution We are working with GSK to perform genetic tests to understand potential adverse effects of cardio vascular drug treatments. These include those affecting the HIF pathway and anaemia in Chronic kidney disease such as EPO stimulating agents.
Collaborator Contribution GSK are providing the expertise in cardio vascular endpoints and contributing financially to staff in Exeter. This collaboration stimulated an MRC CASE studentship award which will begin in September 2017.
Impact Too early
Start Year 2016
 
Description Metagenetic risk profiles 
Organisation University of Melbourne
Country Australia 
Sector Academic/University 
PI Contribution Data sharing
Collaborator Contribution Methods sharing
Impact None as yet
Start Year 2018
 
Description PAGE consortium 
Organisation University of California, Los Angeles (UCLA)
Country United States 
Sector Academic/University 
PI Contribution Collaboration to design and genotype a transethnic genotyping array
Collaborator Contribution With T2DGENES colleagues we designed the array
Impact Design of an array
Start Year 2013
 
Description RHAPSODY 
Organisation University of Lausanne
Country Switzerland 
Sector Academic/University 
PI Contribution My group coleads WP5 in this IMI consortium
Collaborator Contribution There are around 20 academic groups and 5 pharma companies involved in this consortium
Impact Still in early stages
Start Year 2016
 
Description STEMBANCC 
Organisation Eli Lilly & Company Ltd
Country United Kingdom 
Sector Private 
PI Contribution This is a new IMI collaboration (total funding 53M€ from IMI and in kind) to Oxford and 25 other academic institutions.
Collaborator Contribution We will provide clinical material (from patients), characterise stem cell derived tissues derived and manage the diabetes work package
Impact Nil to date
Start Year 2012
 
Description STEMBANCC 
Organisation F. Hoffmann-La Roche AG
Country Global 
Sector Private 
PI Contribution This is a new IMI collaboration (total funding 53M€ from IMI and in kind) to Oxford and 25 other academic institutions.
Collaborator Contribution We will provide clinical material (from patients), characterise stem cell derived tissues derived and manage the diabetes work package
Impact Nil to date
Start Year 2012
 
Description STEMBANCC 
Organisation Novo Nordisk
Country Denmark 
Sector Public 
PI Contribution This is a new IMI collaboration (total funding 53M€ from IMI and in kind) to Oxford and 25 other academic institutions.
Collaborator Contribution We will provide clinical material (from patients), characterise stem cell derived tissues derived and manage the diabetes work package
Impact Nil to date
Start Year 2012
 
Description STEMBANCC 
Organisation Sanofi
Department Aventis
Country France 
Sector Private 
PI Contribution This is a new IMI collaboration (total funding 53M€ from IMI and in kind) to Oxford and 25 other academic institutions.
Collaborator Contribution We will provide clinical material (from patients), characterise stem cell derived tissues derived and manage the diabetes work package
Impact Nil to date
Start Year 2012
 
Description SUMMIT 
Organisation AstraZeneca
Country United Kingdom 
Sector Private 
PI Contribution I am one of the leaders of the consortium with responsiblity specifically for the GWA studies of diabetes complciations at the core of the proposal. It has been funded to a total of €28M by the EU and EFPIA partners under the IMI initiative
Collaborator Contribution This project is funded by EU-IMI. WE lead WP1, have analysed most of teh GWAS data and performed and analysed exome sequencing data. Publications anticipated 2013.
Impact Tangible ouput is 30M euros of funding from EU and pharma Publications 2013
Start Year 2009
 
Description SUMMIT 
Organisation Boehringer Ingelheim
Country Germany 
Sector Private 
PI Contribution I am one of the leaders of the consortium with responsiblity specifically for the GWA studies of diabetes complciations at the core of the proposal. It has been funded to a total of €28M by the EU and EFPIA partners under the IMI initiative
Collaborator Contribution This project is funded by EU-IMI. WE lead WP1, have analysed most of teh GWAS data and performed and analysed exome sequencing data. Publications anticipated 2013.
Impact Tangible ouput is 30M euros of funding from EU and pharma Publications 2013
Start Year 2009
 
Description SUMMIT 
Organisation Eli Lilly & Company Ltd
Country United Kingdom 
Sector Private 
PI Contribution I am one of the leaders of the consortium with responsiblity specifically for the GWA studies of diabetes complciations at the core of the proposal. It has been funded to a total of €28M by the EU and EFPIA partners under the IMI initiative
Collaborator Contribution This project is funded by EU-IMI. WE lead WP1, have analysed most of teh GWAS data and performed and analysed exome sequencing data. Publications anticipated 2013.
Impact Tangible ouput is 30M euros of funding from EU and pharma Publications 2013
Start Year 2009
 
Description SUMMIT 
Organisation F. Hoffmann-La Roche AG
Country Global 
Sector Private 
PI Contribution I am one of the leaders of the consortium with responsiblity specifically for the GWA studies of diabetes complciations at the core of the proposal. It has been funded to a total of €28M by the EU and EFPIA partners under the IMI initiative
Collaborator Contribution This project is funded by EU-IMI. WE lead WP1, have analysed most of teh GWAS data and performed and analysed exome sequencing data. Publications anticipated 2013.
Impact Tangible ouput is 30M euros of funding from EU and pharma Publications 2013
Start Year 2009
 
Description SUMMIT 
Organisation Lund University
Country Sweden 
Sector Academic/University 
PI Contribution I am one of the leaders of the consortium with responsiblity specifically for the GWA studies of diabetes complciations at the core of the proposal. It has been funded to a total of €28M by the EU and EFPIA partners under the IMI initiative
Collaborator Contribution This project is funded by EU-IMI. WE lead WP1, have analysed most of teh GWAS data and performed and analysed exome sequencing data. Publications anticipated 2013.
Impact Tangible ouput is 30M euros of funding from EU and pharma Publications 2013
Start Year 2009
 
Description SUMMIT 
Organisation Pfizer Ltd
Country United Kingdom 
Sector Private 
PI Contribution I am one of the leaders of the consortium with responsiblity specifically for the GWA studies of diabetes complciations at the core of the proposal. It has been funded to a total of €28M by the EU and EFPIA partners under the IMI initiative
Collaborator Contribution This project is funded by EU-IMI. WE lead WP1, have analysed most of teh GWAS data and performed and analysed exome sequencing data. Publications anticipated 2013.
Impact Tangible ouput is 30M euros of funding from EU and pharma Publications 2013
Start Year 2009
 
Description T2D-GENES 
Organisation Broad Institute
Department Medical and Population Genetics Program
Country United States 
Sector Academic/University 
PI Contribution Oxford is on the steering committee of the project, and also heads one of the five funded consortia within the effort. We play a major role in planning, sample provision, analysis and informatics.
Collaborator Contribution Overall program is funded to a total of $24M so far and designed to encourage transethnic studies in t2D genetics. Oxford is on the steering committee of the project, and also heads one of the five funded consortia within the effort. We play a major role in planning, sample provision, analysis and informatics.
Impact Data generation currently, based around next-generation sequencing. We expect high profile publications in 2013.
Start Year 2009
 
Description T2D-GENES 
Organisation National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Country United States 
Sector Public 
PI Contribution Oxford is on the steering committee of the project, and also heads one of the five funded consortia within the effort. We play a major role in planning, sample provision, analysis and informatics.
Collaborator Contribution Overall program is funded to a total of $24M so far and designed to encourage transethnic studies in t2D genetics. Oxford is on the steering committee of the project, and also heads one of the five funded consortia within the effort. We play a major role in planning, sample provision, analysis and informatics.
Impact Data generation currently, based around next-generation sequencing. We expect high profile publications in 2013.
Start Year 2009
 
Description T2D-GENES 
Organisation University of Chicago
Country United States 
Sector Academic/University 
PI Contribution Oxford is on the steering committee of the project, and also heads one of the five funded consortia within the effort. We play a major role in planning, sample provision, analysis and informatics.
Collaborator Contribution Overall program is funded to a total of $24M so far and designed to encourage transethnic studies in t2D genetics. Oxford is on the steering committee of the project, and also heads one of the five funded consortia within the effort. We play a major role in planning, sample provision, analysis and informatics.
Impact Data generation currently, based around next-generation sequencing. We expect high profile publications in 2013.
Start Year 2009
 
Description T2D-GENES 
Organisation University of Michigan
Department University of Michigan Medical School
Country United States 
Sector Academic/University 
PI Contribution Oxford is on the steering committee of the project, and also heads one of the five funded consortia within the effort. We play a major role in planning, sample provision, analysis and informatics.
Collaborator Contribution Overall program is funded to a total of $24M so far and designed to encourage transethnic studies in t2D genetics. Oxford is on the steering committee of the project, and also heads one of the five funded consortia within the effort. We play a major role in planning, sample provision, analysis and informatics.
Impact Data generation currently, based around next-generation sequencing. We expect high profile publications in 2013.
Start Year 2009
 
Description The MUTHER (Multiple Tissues for Human Expression Resource) Consortium 
Organisation King's College Hospital
Country United Kingdom 
Sector Hospitals 
PI Contribution We have contributed to sample preparation, database design and to data analysis
Collaborator Contribution it has supported methods development, and provided samples and a collaborative network for analysis of expression and methylation data relevant to multiple human traits. it has supported methods development, and provided samples and a collaborative network for analysis of expression and methylation data relevant to multiple human traits. it has supported methods development, and provided samples and a collaborative network for analysis of expression and methylation data relevant to multiple human traits.
Impact We have assembled one of the largest tissue expression banks available and are instituting detailed analysis. Two papers have already been published in high profile journals (Nica, PLoS GENETICS 2010; Small Nature genetics 2011) and further publications are in preparation as of Oct 2011.
Start Year 2007
 
Description The MUTHER (Multiple Tissues for Human Expression Resource) Consortium 
Organisation The Wellcome Trust Sanger Institute
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution We have contributed to sample preparation, database design and to data analysis
Collaborator Contribution it has supported methods development, and provided samples and a collaborative network for analysis of expression and methylation data relevant to multiple human traits. it has supported methods development, and provided samples and a collaborative network for analysis of expression and methylation data relevant to multiple human traits. it has supported methods development, and provided samples and a collaborative network for analysis of expression and methylation data relevant to multiple human traits.
Impact We have assembled one of the largest tissue expression banks available and are instituting detailed analysis. Two papers have already been published in high profile journals (Nica, PLoS GENETICS 2010; Small Nature genetics 2011) and further publications are in preparation as of Oct 2011.
Start Year 2007
 
Description The MUTHER (Multiple Tissues for Human Expression Resource) Consortium 
Organisation University of Geneva
Country Switzerland 
Sector Academic/University 
PI Contribution We have contributed to sample preparation, database design and to data analysis
Collaborator Contribution it has supported methods development, and provided samples and a collaborative network for analysis of expression and methylation data relevant to multiple human traits. it has supported methods development, and provided samples and a collaborative network for analysis of expression and methylation data relevant to multiple human traits. it has supported methods development, and provided samples and a collaborative network for analysis of expression and methylation data relevant to multiple human traits.
Impact We have assembled one of the largest tissue expression banks available and are instituting detailed analysis. Two papers have already been published in high profile journals (Nica, PLoS GENETICS 2010; Small Nature genetics 2011) and further publications are in preparation as of Oct 2011.
Start Year 2007
 
Description Wellcome Trust Case Control Consortium (extension) 
Organisation Institute of Cancer Research UK
Country United Kingdom 
Sector Academic/University 
PI Contribution We lead the T2D component of this work as well as contributing to study design and analysis.
Collaborator Contribution We collaborate to understand the impact of CNVs on common disease predisposition and to fine map causal variants for these diseases.
Impact This has led to pioneering work in the field - the first papers are currently under review at Nature and other journals.
Start Year 2007
 
Description genetics and peptides 
Organisation Novo Nordisk
Country Denmark 
Sector Public 
PI Contribution We provide access to T2D GWAS and sequencing data;
Collaborator Contribution NN provides lists of peptides
Impact None as yet
Start Year 2017
 
Title ~150 common variant signals underlying common diseases 
Description We have contributed (using MRC funds wholy or in part) to identification of many genes influencing T2D, BMI and other related phenotypes (see publications). We regard these discoveries as pre competitive (in line with NIH and other recommendations) and have DELIBERATELY chosen not to seek protection. We regard protection of such discoveries as counter productive from the point of view of biological and translational advance. 
IP Reference  
Protection Protection not required
Year Protection Granted 2007
Licensed No
Impact We believe that by sharing these findings as early as possible through publication and without any protection that we support rapid scientific progression and future translational usage.
 
Description American Society of Nephrology, meeting, New Orleans 
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 Workshop and talk at ASN 2017
Year(s) Of Engagement Activity 2017
 
Description Cafe Scientifique - Exeter 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact A 40-45 minute presentation to a lay audience followed by 45 minutes of questions and answers. This was mainly around the "fat gene" story, but all aspects of human genetics were discussed.

There was lots of interest from the audience who asked plenty of searching questions! A member of the audience interviewed me for a piece in Devon Country Life magazine, which increased the impact of the research.
Year(s) Of Engagement Activity 2009
 
Description Conference on personalised nutrition, Shanghai China 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact International conference on personalised nutrition organised by Chinese colleagues
Year(s) Of Engagement Activity 2017
 
Description DNA testing: "Science or Swindle?" 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? Yes
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact This was a public seminar hosted by the DANA centre at the Science Museum, London. I was one of four scientists giving a brief presentation followed by four question and answer sessions. The topic was direct to consumer DNA tests that companies such as DecodeMe and 23andMe are offering.

Lots of questions and comments from a lay audience. For myself, an improved understanding of the public's perceptions of human genetics. For the public, hopefully an improved understanding of human genetics.
Year(s) Of Engagement Activity 2009
 
Description Diabetes UK Professional Conference Insider Event March 9, 2019 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Patients, carers and/or patient groups
Results and Impact Bringing scientific highlights from the Professional Conference of Diabetes UK to members of the organisation.
Year(s) Of Engagement Activity 2019
 
Description Diabetes UK patient and volunteer conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Geographic Reach Regional
Primary Audience Patients, carers and/or patient groups
Results and Impact A presentation followed by question and answer session to >300 Diabetic patients and fundraisers at their annual conference in Manchester, October 2009. I was the only presenter invited to talk about type 2 diabetes related research, along with one presenter invited to talk about type 1 diabetes.

Considerable interest in the question and answer session. Hopefully an improved understanding by the patients of what we learn from their DNA samples.
Year(s) Of Engagement Activity 2009
 
Description Diabetes UK patients and fundraisers 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Presentation adn QandA session to diabetes patients and fundraisers at the DIabetes UK annual conference.

Interest from audience and further invites to other groups
Year(s) Of Engagement Activity 2009
 
Description East Meets West Conference Hong Kong 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Lecture, debates, discussions about diabetes genetics in East Asia and beyond
Year(s) Of Engagement Activity 2016
 
Description Genomics for Clinicians meeting 
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 I gave a presentation at this 4 day workshop on the value of diabetes genetics in genomic medicine
Year(s) Of Engagement Activity 2017
 
Description International Diabetes federation, Abu DHabi 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact PResentation at IDF meeting
Year(s) Of Engagement Activity 2017
 
Description Interview for Medscape 
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 Public/other audiences
Results and Impact Interview on Medscape related to personalised medicine for diabetes
Year(s) Of Engagement Activity 2019
 
Description NovoNordisk Workshop on Early Growth genetics 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Part of a discussion about the role of genes and environment on the relationship between early growth and later metabolic disease
Year(s) Of Engagement Activity 2017
 
Description Personalised genomics 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact Public debate; conference presentations

Improved understanding of the issues by the audience
Year(s) Of Engagement Activity 2009,2012,2013,2015,2016
 
Description Personalised medicine Symposium, Bastad Sweden 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Part of a symposium on Personalised Medicine held in Sweden
Year(s) Of Engagement Activity 2016
 
Description Pint of Science 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact A talk on obesity genetics at a local pub. "Pint of Science" was sponsored by the Wellcome Trust and eLIFE
Year(s) Of Engagement Activity 2016
 
Description Progress Education Trust 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? Yes
Geographic Reach National
Primary Audience Health professionals
Results and Impact Workshop/Seminar on hype in genetics

discussions, followup contacts
Year(s) Of Engagement Activity 2009
 
Description Scientific presentations and seminars 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Data from these two grants has been presented at a large number of international meetings including American Diabetes Association, American Soc Human Genetics, Genomics of Common Diseases and other meetings (approx 20 a year)

Large audiences
Year(s) Of Engagement Activity 2012,2013,2015,2016
 
Description Short article in study participants' newsletter. 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? Yes
Geographic Reach Local
Primary Audience Patients, carers and/or patient groups
Results and Impact Short articles describing our research on diabetes and birth weight genes aimed at patients and research volunteers who had contributed DNA and phenotype information from themselves and in some cases, their offspring.

A greater understanding of genetic research by the study participants - in Exeter we have successfully recruited a large number of individuals to genetic studies. Virtually no-one declines to take part in a study on the grounds that they are suspicious of genetic research. Although hard to prove we hope that our "user-friendly" dissemination is part of the reason for this success.
Year(s) Of Engagement Activity 2007,2008,2009,2010,2011
 
Description Wellcome Trust - Artists 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Describing genetic research to artists and those in visual media interesting in applying to Wellcome Trust Arts-related funding

Informed projects submitted to WT for funding
Year(s) Of Engagement Activity 2008
 
Description Wellcome Trust - Journalists 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Media (as a channel to the public)
Results and Impact Lectures to and meetings with science journalists. In addition, frequent contacts with national and international journalists to comment on stories, provide quotes etc

Newspapers, online media, radio, quotes, articles
Year(s) Of Engagement Activity 2007,2009,2012,2013
 
Description chinese diabetes society, Chongqing 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Presentation to several thousand people at Chinese DIabetes Association
Year(s) Of Engagement Activity 2017