Quantitative Traits in Health and Disease

Lead Research Organisation: University of Edinburgh

Abstract

Our aim is to understand the genetic and environmental causes of variation in complex traits and diseases. These include common conditions such as heart disease, obesity and disorders of the eye. We develop and apply a range of statistical analysis methods to identify genetic differences that are connected with either good or bad health throughout a person’s lifetime. This will help to predict the risk of people developing particular conditions, as well as providing a foundation for the future development of personalised and precision medicine.
To achieve this we are using “Biobanks” of large numbers of volunteer research participants, to enable research ranging from simple postal surveys to clinical studies with hospital visits, and detailed and wide-ranging analyses of the collected biological samples, such as blood and urine.
The volunteers in our biobanks also gave consent for researchers to link to their NHS electronic health record data, allowing for long-term follow-up of their health via medical records, and relating this to their genetic make-up
The results will help to understand the relationships between genetic variation, gene function and health, integrating computational and experimental approaches. This will allow new scientific discoveries to be made that are relevant to a wide range of conditions and will contribute to advances in medical research and customised healthcare for patients and populations.

Technical Summary

This programme aims to deliver biological understanding of the genetic and environmental causes of variation in complex traits and diseases. To do this we will harness the special population structures in our population cohorts, together with the unparalleled capacity in Scotland to achieve extensive linkage to eHealth records, the creation of uniquely high dimensional phenotype datasets, and the effective multidisciplinary team. We will capitalise upon the special features of our study populations together with data from Generation Scotland, UK Biobank and collaborators to dissect trait genetic architecture and identify genetic variants associated with a broad range of quantitative traits of biomedical importance. We will develop and apply computational approaches to provide understanding of the genetic and environmental sources of biomedical trait variation together with their interactions. In order to exploit the “jackpot effect” of otherwise rare variants with increased frequencies in population isolates, we focus our research on Scottish (Orkney and Shetland) and Croatian (Vis and Korcula) cohorts, increasing both the size and power of our cohorts and the depth of their phenotyping. High kinship within our isolate populations facilitates imputation of variants into all genotyped individuals, with an increase in sample size enhancing detection power for both rare and common variants, using association and gene-based mapping methods. Biobanked samples (plasma, serum and urine) allow expansion of deep phenotyping (including proteomics, metabolomics, glycomics, urine traits), enabling more detailed exploration of the biology underlying associations. We will use these rich intermediate phenotype and other data to identify pathways from the genome and epigenome, through the proteome and metabolome, and to assess their impact on human health and disease using multivariate genome-wide association studies (GWAS), phenomics, two-sample Mendelian Randomisation and other integrative approaches. We also continue to functionally characterise a number of the associations, taking findings further along the translational pathway and illuminating mechanisms. The programme will contribute to our understanding of the relationships between genetic variation, gene function and health, integrates computational and experimental approaches and strengthens population cohorts towards development of precision medicine. This research programme will complement resources such as UK Biobank, which do not focus on related individuals and have limited molecular phenotyping, identifying low frequency variants and familial environmental contributions that are opaque to such studies, and leveraging the multi-omics data to suggest causality and mechanisms through, e.g. MR approaches. In the near future as long-read DNA sequencing becomes sufficiently affordable and many thousands of proteins can be assayed inexpensively, our resources will be ideal for exploring the role of novel genomic variation and further characterisation of the protein architecture of disease.

Publications

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Anderson J (2019) SA91A GENOME-WIDE ASSOCIATION STUDY OF COMPLETED SUICIDE IN UTAH in European Neuropsychopharmacology

 
Description Amy Findlay salary
Amount £70,000 (GBP)
Organisation Sight Research UK 
Sector Charity/Non Profit
Country United Kingdom
Start 06/2019 
End 08/2020
 
Description Carnegie Research Incentive Grant - PRDM5 Controls Corneal Thickness in Health and Disease
Amount £14,853 (GBP)
Funding ID RIG009328 
Organisation Carnegie Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 03/2020 
End 03/2021
 
Description Establishing causal relationships from phenotypic, genotypic, and proteomic data.
Amount £233,584 (GBP)
Funding ID 204979/Z/16/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 07/2016 
End 07/2019
 
Description Exploiting Omics To Measure Genome-by-diet Interactions
Amount £15,000 (GBP)
Organisation Carnegie Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2021 
End 01/2022
 
Description Exploiting large-scale exome sequence data to determine the genetic control of healthy ageing.
Amount £99,034 (GBP)
Funding ID BB/S508032/1 
Organisation Biotechnology and Biological Sciences Research Council (BBSRC) 
Sector Public
Country United Kingdom
Start 08/2018 
End 09/2022
 
Description Exploiting large-scale exome sequence data to determine the genetic control of healthy aging
Amount £72,000 (GBP)
Funding ID 2274606 
Organisation Biotechnology and Biological Sciences Research Council (BBSRC) 
Sector Public
Country United Kingdom
Start 07/2019 
End 08/2023
 
Description Exploiting large-scale exome sequence data to determine the genetic control of healthy aging-BBSRC NATIONAL PRODUCTIVITY INVESTMENT FUND (NPIF) STUDENTSHIPS
Amount £72,000 (GBP)
Funding ID BB/S508032/1 
Organisation Biotechnology and Biological Sciences Research Council (BBSRC) 
Sector Public
Country United Kingdom
Start 08/2019 
End 08/2023
 
Description From GWAS to function: a role for ZNF469 in the response of the corneal stroma to growth factor signals from WT_ISSF
Amount £27,285 (GBP)
Funding ID IS3-R81 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 04/2018 
End 04/2019
 
Description Gene-by-environment interactions in depression
Amount £80,000 (GBP)
Funding ID 2096818 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 01/2018 
End 02/2022
 
Description Generation Scotland:NextGenScot
Amount £5,163,009 (GBP)
Funding ID 216767/Z/19/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 11/2019 
End 11/2024
 
Description Harnessing genome characterization to uncover disease mechanisms
Amount £99,034 (GBP)
Funding ID 2606248 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 07/2021 
End 02/2025
 
Description Investigating the genetic architecture of complex traits in Soay sheep
Amount £72,000 (GBP)
Funding ID 2278106 
Organisation Natural Environment Research Council 
Sector Public
Country United Kingdom
Start 07/2019 
End 08/2023
 
Description Investigating the mechanisms underlying disease using multiOmics data
Amount £72,000 (GBP)
Funding ID 2259226 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 07/2019 
End 02/2023
 
Description Investigating the mechanisms underlying disease using multiOmicsdata
Amount £99,034 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 08/2019 
End 02/2023
 
Description MSc(Zhejiang) student projects
Amount £5,000 (GBP)
Organisation University of Edinburgh 
Sector Academic/University
Country United Kingdom
Start 09/2018 
End 08/2019
 
Description Project Grant Ref 5131/5132
Amount £249,953 (GBP)
Funding ID Project Grant Ref 5131/5132 
Organisation Fight for Sight 
Sector Charity/Non Profit
Country United Kingdom
Start 03/2020 
End 03/2021
 
Description STRADL - Wellcome Trust Programme Grant
Amount £4,787,640 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2015 
End 12/2019
 
Description The clinical impact of inherited chromosomally-integrated human herpesvirus 6 (iciHHV-6): a comprehensive analysis using UK Biobank
Amount £1,210,506 (GBP)
Funding ID MR/T030941/1 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 11/2020 
End 10/2023
 
Description Towards a therapy for late-onset retinal degeneration (L-ORD)
Amount £497,971 (GBP)
Organisation LifeArc 
Sector Charity/Non Profit
Country United Kingdom
Start 03/2021 
End 03/2024
 
Description Uncovering complex trait genetic architecture through integrative epigenomics in an advanced intercross chicken line
Amount $1,300,000 (USD)
Funding ID 2022-67015-36215 
Organisation University of California, Davis 
Sector Academic/University
Country United States
Start  
 
Description Wellcome Trust ECAT Fellowship
Amount £233,584 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 07/2016 
End 07/2019
 
Description Wellcome Trust ECAT Fellowship
Amount £233,584 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 08/2018 
End 02/2021
 
Title Genome-wide pleiotropy and shared biological pathways for resistance to bovine pathogens 
Description The database represents data on disease and production traits in dairy cattle that was the basis or our collaborative research and can be used for further analyses by ourselves and others. 
Type Of Material Database/Collection of data 
Year Produced 2018 
Provided To Others? Yes  
Impact None as yet 
URL https://datashare.is.ed.ac.uk/handle/10283/3040
 
Description CHARGE 
Organisation Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE)
Country Global 
Sector Academic/University 
PI Contribution The MRC HGU QTL group, particularly through Caroline Hayward and Jenny Huffman, has a long-standing collaboration with CHARGE with data from the isolates cohorts contributing to a wide range of Phenotype Working Groups, and more recently data from Generation Scotland has also been included in the collaboration.
Collaborator Contribution The CHARGE Consortium was formed to facilitate genome-wide association study meta-analyses and replication opportunities among multiple large and well-phenotyped longitudinal cohort studies. CHARGE has provided statistical and analytical methods development and facilitated the publication of many high impact papers.
Impact PubMed ID 22589738, 22199011, 22001757, 21502573, 24068962, 23583979
Start Year 2009
 
Description CKDgen 
Organisation CKDGen Consortium
Country Global 
Sector Academic/University 
PI Contribution Genotype and phenotype data relevant to chronic kidney disease.
Collaborator Contribution Analysis plans and meta-analysis.
Impact PubMed ID 22962313, 22797727, 22479191, 22492995, 24029420
Start Year 2008
 
Description COVID 19 Host Genetics Initiative 
Organisation Broad Institute
Country United States 
Sector Charity/Non Profit 
PI Contribution We have joined this Global Initiative in order to contribute our knowledge and expertise to initiatives to improve future research solutions to COVID19. Included Coronagenes and Generation Scotland data.
Collaborator Contribution The COVID-19 host genetics initiative brings together the human genetics community to generate, share, and analyze data to learn the genetic determinants of COVID-19 susceptibility, severity, and outcomes. Such discoveries could help to generate hypotheses for drug repurposing, identify individuals at unusually high or low risk, and contribute to global knowledge of the biology of SARS-CoV-2 infection and disease.
Impact Mapping the human genetic architecture of COVID-19: an update (MedRxiv)
Start Year 2020
 
Description Consortium for Refractive Error & Myopia (CREAM) 
Organisation Consortium for Refractive Error and Myopia
Country Singapore 
Sector Charity/Non Profit 
PI Contribution Contribution of detailed eye-related phenotype and genome-wide genotype data to meta-analyses by the CREAM consortium.
Collaborator Contribution Analysis plans and meta-analysis across a range of cohorts.
Impact Not multi-disciplinary. PubMed ID 22665138, 23474815, 23396134, 24144296,
Start Year 2012
 
Description DIAGRAM 
Organisation Diabetes Genetics Replication and Meta-Analysis (DIAGRAM) Consortium
Country United Kingdom 
Sector Academic/University 
PI Contribution Genome-wide genotype data and diabetes-related phenotype data on a variety of isolate cohorts.
Collaborator Contribution Analysis and meta-analysis methods.
Impact PubMed ID
Start Year 2008
 
Description ECUT 
Organisation European Consortium of Urinary Traits
Country European Union (EU) 
Sector Charity/Non Profit 
PI Contribution Urine samples from participants in isolate and general population cohorts for detailed laboratory analysis of a range of phenotypic measures relevant to kidney function.
Collaborator Contribution Expertise in high-throughput analytical methods for analysis of urine samples, data from other cohorts and prediction of functional consequences.
Impact PMID: 24578125, 29093028, 28586769, 27915449, 26966016
Start Year 2010
 
Description FarmGTEx 
Organisation U.S. Department of Agriculture USDA
Department Beltsville Agricultural Research Center
Country United States 
Sector Academic/University 
PI Contribution See http://edin.ac/2Q9UgrP. The Farm Animal Genotype-Tissue Expression (FarmGTEx) consortium is a collaborative endeavour that includes over 20 Universities and Institutes around the world. Its aim is to provide a comprehensive atlas of tissue-specific gene expression and genetic regulation in livestock. The consortium is coordinated between Edinburgh (Roslin Institute and MRC Human Genetics Unit) and Betsville (USDA-ARS). Pau Navarro is a member of the steering committee and coordinated the introductory workshop.
Collaborator Contribution Partners have contributed data, analytical and computational resources, as well as jointly setting direction of research.
Impact See 10.1101/2020.12.01.406280, accepted in Nature Genetics now. Further manuscripts in preparation
Start Year 2019
 
Description FinnDiane 
Organisation University of Helsinki
Country Finland 
Sector Academic/University 
PI Contribution Collaboration on the analysis of urinary trait metabolomic data. Meta-analysis in progress
Collaborator Contribution Collaboration on the analysis of urinary trait metabolomic data. Meta-analysis in progress
Impact None as yet
Start Year 2020
 
Description GIANT 
Organisation Broad Institute
Department The Genetic Investigation of ANthropometric Traits (GIANT)
Country United States 
Sector Academic/University 
PI Contribution Genome-wide genotype and many anthropometric trait measures from a range of cohorts.
Collaborator Contribution Development of analysis plans and new software and methodologies for genetic analyses.
Impact PubMed ID
Start Year 2008
 
Description GUGC 
Organisation Global Urate Genetics Consortium (GUGC)
Country Global 
Sector Charity/Non Profit 
PI Contribution Genome-wide genotype and detailed phenotypic data relevant to the study of gout.
Collaborator Contribution Analysis plans and meta-analyses.
Impact Not multi-disciplinary. PubMed ID 23263486
Start Year 2008
 
Description GenOMICC 
Organisation Royal Infirmary of Edinburgh
Country United Kingdom 
Sector Hospitals 
PI Contribution Members of the QTL programme made considerable contributions to the statistical genetics leadership of the GenOMICC GWAS of severe COVID
Collaborator Contribution The GenOMICC (Genetics Of Mortality In Critical Care, https://genomicc.org/) study has been recruiting patients with critical illness syndromes, including influenza, sepsis and emerging infections, for 5 years. To better understand the host mechanisms that lead to life-threatening disease in patients with COVID-19, we performed a genome-wide association study (GWAS) comparing critically ill patients with COVID-19 with controls from population genetic studies in the UK.
Impact Pairo-Castineira, E., Clohisey, S., Klaric, L. et al. Genetic mechanisms of critical illness in COVID-19. Nature 591, 92-98 (2021). https://doi.org/10.1038/s41586-020-03065-y PMID: 33307546 Kousathanas, Nature, in press
Start Year 2020
 
Description Generation Scotland 
Organisation Generation Scotland
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution To date in this collaboration, DNA from 14,000 GS:SFHS participants has been analysed by high density genome-wide chip genotyping. These results are being compared with those in published meta-analyses and the genome-wide data are being used by the QTL group in a range of research projects involving both international consortia and local experts. Our research team has recently been asked by the Generation Scotland Executive to form an Expert Working Group" in Genome-Wide Genetic Analysis. It has the remit to undertake and quality assure work on the GS:SFHS genome-wide genotype and its subsequent analysis and accessibility.
Collaborator Contribution The Generation Scotland Scottish Family Health Study (GS:SFHS) is a family-based genetic epidemiology cohort with DNA, other biological samples (serum, urine and cryopreserved whole blood) and socio-demographic and clinical data from approximately 24,000 volunteers, aged 18-98 years, in ~7,000 family groups. GS has been made possible through a unique partnership between the Scottish people, the NHS in Scotland and the Scottish University Medical Schools. Generation Scotland operates as a biobank and provided phenotype data and DNA samples for genome-wide analyses by the QTL group.
Impact PMID: 23521772 PMID: 25293386 PMID: 24944428 PMID: 24554214 PMID: 25078964 PMID: 24929828
Start Year 2012
 
Description Global Lipids Genetic Consortium 
Organisation Global Lipids Genetic Consortium (GLGC)
Country United States 
Sector Charity/Non Profit 
PI Contribution Genome-wide genotype and data generated by the EUROSPAN consortium, together with phenotype data relevant to the study of lipids.
Collaborator Contribution Analysis plans, methods and meta-analyses.
Impact PubMed ID 22359512
Start Year 2011
 
Description GoDMC (Genetics of DNA Methylation Consortium) 
Organisation University of Bristol
Country United Kingdom 
Sector Academic/University 
PI Contribution We have provided and analysed the replication cohort in a multicentre collaboration led from the University of Bristol studying the genetic control on DNA methylation.
Collaborator Contribution The partners separately provided results from genetic analyses of methylation across multiple human population cohorts coordinated from the University of Bristol.
Impact A manuscript describing the results is currently under review.
Start Year 2018
 
Description ICBP 
Organisation International Consortia of Blood Pressure (ICBP-GWAS)
Country United States 
Sector Academic/University 
PI Contribution Genome-wide and imputed genotype data and detailed phenotype data relating to blood pressure.
Collaborator Contribution Analysis plans and meta-analyses.
Impact PubMed ID 21909115
Start Year 2009
 
Description Lothian Birth Cohorts 
Organisation University of Edinburgh
Department MRC Centre for Cognitive Ageing and Cognitive Epidemiology
Country United Kingdom 
Sector Academic/University 
PI Contribution The general cognitive ability (g) factor is strongly correlated with the other cognitive traits examined and shows high heritability. It is strongly predictive of many health related outcomes, including cognitive decline, dementia, cardiovascular disease and age at death and is a major focus of the current genome-wide association analyses being carried out in collaboration between the QTL and LBC research groups.
Collaborator Contribution Participants in the CROATIA cohorts, the Viking Health Study and the Generation Scotland Scottish Family Health Study have undergone a range of tests, including detailed testing for cognitive traits using the same validated methods. These tests were led by the partners at LBC who are experts in these phenotypic measures.
Impact Not multi-disciplinary. PubMed ID 17601350, 19290744, 18946731, 19077176, 25201988, 24944428, 24828478, 24573858, 24554214, 23722424, 22628180
Start Year 2006
 
Description MAGIC 
Organisation MAGIC
Country United Kingdom 
Sector Public 
PI Contribution Genotype and phenotype relating to insulin and glucose measures and related traits.
Collaborator Contribution Analysis plans and meta-analysis.
Impact PubMed ID 21962509, 22885924, 22581228
Start Year 2008
 
Description Regeneron Exome Sequencing 
Organisation Regeneron Pharmaceuticals, Inc.
Country United States 
Sector Private 
PI Contribution All fieldwork to collect samples and data, preparation of data dictionaries, pedigree verification, provision of purified DNA for sequencing. Analysis of the resulting exome sequencing data will be a collaboration involving both researchers from the QTL Group and from Regeneron.
Collaborator Contribution Library preparation and exome sequencing of approximately 9,000 DNA samples.
Impact No outcomes yet.
Start Year 2017
 
Description Reprogen 
Organisation ReproGen Consortium
Country Global 
Sector Academic/University 
PI Contribution Contribution of genome-wide genetic and detailed phenotype data relevant to reproductive health.
Collaborator Contribution Analysis plans and meta-analysis.
Impact Not multi-disciplinary. PubMed IDs 22267201
Start Year 2010
 
Description Spirometa 
Organisation SpiroMeta Consortium
Country Global 
Sector Academic/University 
PI Contribution Contribution of lung function phenotype and genome-wide genotype data to the Consortium.
Collaborator Contribution Analytical project plans and meta-analyses. Expertise in the lung function phenotype.
Impact Not multi-disciplinary. PMID: 24929828, 30804561, 30175238, 28082375, 26404118, 26395457, 21625484, 20010834
Start Year 2008
 
Description Stratifying Anxiety and Depression Longitudinally (STRADL) 
Organisation University of Aberdeen
Department Institute of Biological and Environmental Sciences
Country United Kingdom 
Sector Academic/University 
PI Contribution Contribution to design and performance of genetic analyses of data
Collaborator Contribution Contribution of data and trait domain expertise
Impact Publications are listed separately: Zeng et al (2017); Zeng et al. (2016 a, b); McIntosh et al. (2016); Fernandez-Pujals et al. (2016)
Start Year 2015
 
Description Stratifying Anxiety and Depression Longitudinally (STRADL) 
Organisation University of Dundee
Department College of Life Sciences
Country United Kingdom 
Sector Academic/University 
PI Contribution Contribution to design and performance of genetic analyses of data
Collaborator Contribution Contribution of data and trait domain expertise
Impact Publications are listed separately: Zeng et al (2017); Zeng et al. (2016 a, b); McIntosh et al. (2016); Fernandez-Pujals et al. (2016)
Start Year 2015
 
Description Stratifying Anxiety and Depression Longitudinally (STRADL) 
Organisation University of Glasgow
Department Institute of Health and Wellbeing
Country United Kingdom 
Sector Academic/University 
PI Contribution Contribution to design and performance of genetic analyses of data
Collaborator Contribution Contribution of data and trait domain expertise
Impact Publications are listed separately: Zeng et al (2017); Zeng et al. (2016 a, b); McIntosh et al. (2016); Fernandez-Pujals et al. (2016)
Start Year 2015
 
Description 6th Scottish Biomedical Postdoctoral Researcher Conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Postgraduate students
Results and Impact Chloe Stanton Presentation at 6th Scottish Biomedical Postdoctoral Researcher Conference
Year(s) Of Engagement Activity 2021
 
Description Addition to Expert Bank at James Gillespie's High School through the Developing the Young Workforce (DYW) coordinator 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact The aim of the programme is to give pupils a vision of available careers through:
1. Bringing the curriculum to life
Classroom delivery, teacher will have access to the parent directory and will fit the talks into their classroom lessons. The types of talks will be depend on what they are wanting to deliver to the pupils i.e. Sector awareness, routes and pathways , Apprenticeship, Skills and challenges. DYW Coordinator will organise these session on behalf of the teaching staff.

2. Industry Insight talk Friday afternoons 1-2pm.
We will be running after school sessions for all pupils, and inviting different industry experts in to talk about their career pathways and their exciting careers. DYW coordinator will organise and run these sessions.

Given the pandemic, I have not participated in activities just yet and I am awaiting for the programme to progress as further restrictions are lifted.
Year(s) Of Engagement Activity 2021,2022
 
Description Broughton High School Careers Fair 
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 Provided leaflets, presented poster information and talked to high school students of all ages about what kind of careers are possible at an Institute like IGMM - both with and without graduate study. Many had no idea that a world-leading genetics Institute was on their doorstep and were very interested to hear about what we do, and the pathways that can lead to working in a science lab.
Year(s) Of Engagement Activity 2019
 
Description Careers in bioscience discussions with S6 High School Student 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Other audiences
Results and Impact I discussed careers in biomedicine with an S6 student , as she was deciding which path to take to further his education. The student showed a lot of interest and subsequently I arranged a "digital visit" to the sector putting together a list of accessible video conferences and providing a link through to earlier career researchers within our group that made themselves available to continue the discussions from a PhD student's (3rd and 1st year) perspective.
Year(s) Of Engagement Activity 2021,2022
 
Description Edinburgh International Science Festival 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Edinburgh International Science Festival 2018 activities as part of College-wide exhibition, which sparked questions and discussions.
Year(s) Of Engagement Activity 2018
URL https://www.sciencefestival.co.uk/
 
Description European Society of Human Genetics Annual Meeting 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Chloe Stanton presentation at European Society of Human Genetics Annual Meeting
Year(s) Of Engagement Activity 2021
 
Description Genetics Society/University of Edinburgh Outreach activity for high school students 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Schools
Results and Impact At this science and career exploration event for S5 and S6 pupils, young researchers at the University of Edinburgh's Roslin Institute, MRC Institute of Genetics and Molecular Medicine and Centre for Biomedicine, Self & Society, talked about their work in genetics and ethics and their career paths so far. This sparked questions and discussion about some of the ethical issues facing scientists and society, and about applications to University. This event was part of the 2019 Genetics Centenary celebrations - 100 years since the founding of the Genetics Society and 100 years of Animal Genetics in Edinburgh - and was supported by the Genetics Society.
Year(s) Of Engagement Activity 2019
 
Description Genetics Unzipped podcast 
Form Of Engagement Activity A broadcast e.g. TV/radio/film/podcast (other than news/press)
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact How can we use genetic techniques to understand chronic pain?
Year(s) Of Engagement Activity 2021
URL https://geneticsunzipped.com/news/2021/6/17/
 
Description Genetics Unzipped podcast 
Form Of Engagement Activity A broadcast e.g. TV/radio/film/podcast (other than news/press)
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Patients, carers and/or patient groups
Results and Impact "Genetics Unzipped podcast: The eyes have it - from genetics to gene therapy"
Year(s) Of Engagement Activity 2020
URL https://geneticsunzipped.com/search?q=chloe+stanton
 
Description IGMM Doors Open Day 10 Minute Researcher Talk 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Nearly 200 members of the public attended the Doors Open Day event at IGMM, showcasing to the general public the research ongoing at the IGMM. Presented a talk to a lay audience showcasing the work of the QTL group, and had stimulating discussion with members of the public, including high school students interested in studying genetics at University.
Year(s) Of Engagement Activity 2019
 
Description MRC Festival 2018 - Celebrating Generation Scotland Participants 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Study participants or study members
Results and Impact Volunteers of the Generation Scotland cohort attended visited HGU/IGMM facilities and attended four short talks about some of the research that is done locally using Generation Scotland data.
Year(s) Of Engagement Activity 2018
URL https://www.ed.ac.uk/generation-scotland/news-events/latest-news/celebrating-generation-scotland-par...
 
Description MRC Festival event: Shining a Light on Genetic Disorders 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Presented a poster on the work that we have been doing to understand the genetic causes of L-ORD. The festival aimed to "shine a light on genetic disorders" for members of the public, emphasising where possible the importance of partnerships between researchers, clinicians and people living with genetic conditions. Of particular note was interesting discussion with a Member of the Scottish Parliament (whose mother was affected by sight-loss), and engagement with a local family affected by L-ORD who were very interested to hear about our work.
Year(s) Of Engagement Activity 2019
 
Description Open Doors Day at the IGMM 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Part of the "Doors Open" initiative which allows members of the public to visit locations normally closed to public access. Presentations and demonstrations on work of the IGMM led to questions and discussions from visitors.
Year(s) Of Engagement Activity 2018
 
Description Orkney International Science Festival 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact On 10th September 2018, researchers from the QTL Programme at the University of Edinburgh took part in the Orkney International Science Festival.
A number of talks were given, including four involving the ORCADES or VIKING cohorts.
Year(s) Of Engagement Activity 2018
URL https://www.ed.ac.uk/viking/whats-new/events/orkney-international-science-festival
 
Description Orkney International Science Festival 2020 
Form Of Engagement Activity A broadcast e.g. TV/radio/film/podcast (other than news/press)
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact Two talks, given by Dr Carmen Amador and Dr Shona Kerr, live streamed with Q&A afterwards.
Year(s) Of Engagement Activity 2020
URL https://oisf.org/
 
Description Participation in an activity, workshop or similar - Visit to CEIP 9 D'OCTUBRE (ALCÀSSER, Spain) Pre-School and Primary School for the 2020 International Day of Women and Girls in Science 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Schools
Results and Impact Main event 30/01/2020, with engagement prior to the visit (sending introductory letter, discussing prior activities with teaching staff) and following-up (ongoing) additional science/genetics related activities.
To kick off activities related to the 2020 International Day of Women and Girls in Science, Pau Navarro visited the Pre-School and Primary School CEIP 9 D'OCTUBRE (ALCÀSSER, Spain). She engaged with 250 pupils between the ages of 3 and 7 (2 classes each of 25 pupils for 3, 4 and 5 year-olds (pre-school), and 2 classes each of 6 and 7 year-olds (primary 1 and 2 equivalent)), their teaching and support staff and parent volunteers. The activities were delivered to eight groups of 25 pupils each (3-6 year-olds) and a single group of 50 7 year-olds.
The activities were designed to explain to the pupils what being a scientist means, and let them have a go at being a hands-on budding one through observation and description of objects looked at through magnifying glasses, a traditional microscope and a small digital camera and a microscope attached to a phone that allowed recording of images.
The activity was tailored to the different age groups and discussions with the primary school groups also involved introducing the concepts of phenotypic variation, inheritance and chromosomes.
Engagement with the pupils started prior to the visit through an introductory letter sent to the pupils, and a series of tasks (i.e., collect interesting objects, prepare questions for the visiting scientist), and has continued after, with primary school children continuing activities introduced during the visit (i.e. looking at photos of cells under the microscope and drawing with detail, "colourful chromosomes activity), and preparation of further question list with questions that were sparked by the visit. We are working on preparing a web story jointly with the pupils.
Year(s) Of Engagement Activity 2020
 
Description Presentation and hands on workshop at local Scout Cubs Unit (35th Braid (Priestfield) Scout Group) 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Other audiences
Results and Impact Date: Main event 20/11/2020, with engagement with leaders prior to the visit to discuss activities, set up of the hall and to plan delivery of presentation and workshop adhering to government social distancing guidelines and church hall health and safety COVID-19 procedures.

The activities were designed to complement those done by the leaders towards the Health and Wellbeing badge. Following the Cubs activities learning about bones and muscles, I prepared a slide presentation to introduce phenotypic variation, cells and DNA, as well as the use of microscopes to learn about them. We looked at and discussed some cool microscopic cell images linking cell structure to function. This was followed by a workshop in which Cubs had a go at building either a "cut-and-paste" or "draw your own" cells with organelles, drawing "cells under the microscope" using acetate sheet and markers and exploring how their "colourful chromosomes differed from those of their friends. I had prepared an activity pack for each Cub and leader in advance to minimise handling of materials and adhere to COVID guidelines.
Year(s) Of Engagement Activity 2020
 
Description Public Lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Talk at the Shetland Museum,Lerwick by Prof Jim Wilson.
Part of the launch of the VIKING II Study recruitment, funded by this award.
Year(s) Of Engagement Activity 2020
URL http://www.ed.ac.uk/viking
 
Description Public Lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Public lecture at the Orkney Family History Society, Kirkwall, by Prof Jim Wilson.
Part of the launch of the VIKING II study recruitment, funded by this award.
Year(s) Of Engagement Activity 2020
URL http://www.ed.ac.uk/viking
 
Description Rare Disease Day 2022 
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 Twitter takeover @rarediseaseuk to raise awareness and highlight our research into rare genetic eye diseases, reaching an international audience. Rare Disease UK is a national campaign run by Genetic Alliance UK to improve the lives of those affected by rare conditions and all who support them
Year(s) Of Engagement Activity 2022
 
Description Remote activity at CEIP 9 D'OCTUBRE (ALCÀSSER, Spain) - Primary School - for the 2021 International Day of Women and Girls in Science 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Schools
Results and Impact Date: Main event 11/02/2021 (2021 International Day of Women and Girls in Science), with engagement with teaching staff prior to the visit to discuss activities. This activity is part of my continuous engagement with the CEIP 9 D'OCTUBRE, initiated at the end of 2019. COVID-19 travel guidelines prevented the delivery of the activity by me at the school. As an alternative, the delivery of a synchronous online workshop was planned but this had to be later dismissed due to logistic difficulties and instead I prepared an activity pack and liaised with teachers to support them in the delivery of the activities.
The activities were designed to follow on from my visit in 2020 to the school for the 2020 International Day of Women and Girls in Science, in which I engaged with the same cohort of students in their pre-school year, discussing "what is it like being a scientist" and "how to have a close look at small things". The activities were built around the concepts of cells ("our small building blocks") chromosomes and inheritance.
Year(s) Of Engagement Activity 2021
 
Description Science Insights work experience week 
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 Over the course of the busy Science Insights work experience week, 16 year old school pupils from 28 Scottish schools took part in interactive sessions with scientists, toured research facilities, met students, and visited a farm. They also participated in group discussions on ethics in research, the use of animals in research, and explored the relationship between science and the media. This is particularly useful for school pupils considering a degree course or other training in biomedical research.
Year(s) Of Engagement Activity 2018
URL https://www.ed.ac.uk/mrc-human-genetics-unit/news-and-events/news-2018/science-insights-work-experie...
 
Description Scottish group of the Society of Occupational Medicine meeting - Invited talk 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact SOM Scottish Regional Group, Autumm Meeting 2018. The programme covered informative talks about general medical issues which impact on fitness for work and are commonly seen in Occupational Health practice.
Year(s) Of Engagement Activity 2018
URL https://www.som.org.uk/scotland
 
Description Shining a light on genetic eye disease 
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 An online event to highlight MRC HGU research into genetic eye disease for people living with genetic disorders and their families
Presentation: The genetics of keratoconus and brittle cornea syndrome
Year(s) Of Engagement Activity 2021
 
Description University of Edinburgh Medical Education Centre launch event 
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 Organised by the Edinburgh Medical School, and hosted by Professor Moira Whyte, Head of Edinburgh Medical School, to showcase the new look MEC and celebrate the longstanding and successful collaboration between the University of Edinburgh and NHS Lothian to undergraduate and postgraduate medical education. It was an opportunity to highlight and discuss our research into the genetics of health and disease with a wide audience including colleagues from the College of Medicine and Veterinary Medicine, the NHS, Royal Colleges, Edinburgh Medical students and postgraduate students.
Year(s) Of Engagement Activity 2020
 
Description VIKING II Anniversary Talk 
Form Of Engagement Activity Engagement focused website, blog or social media channel
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Study participants or study members
Results and Impact Talk by Prof Jim Wilson to mark the first anniversary of the launch of VIKING II cohort recruitment.
Broadcast on Viking Genes YouTube channel, with live Q&A afterwards.
Year(s) Of Engagement Activity 2020
URL https://www.youtube.com/watch?reload=9&v=kvMx0N9rRDI
 
Description VIKING II Launch Press and Publicity 
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 Press release issued by the University of Edinburgh in January 2020 led to print and social media coverage locally, nationally and internationally.
Also covered in national TV news and the BBC website.
Helped towards the successful launch of recruitment to the VIKING II Study.
Year(s) Of Engagement Activity 2020
URL http://www.ed.ac.uk/viking
 
Description Visit to James Gillespies Secondary School to discuss Maths in the workplace 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact Albert Tenesa liaised with the maths faculty at James Gillespies High School to organise an afternoon with senior (S4-S6) maths pupils, to discuss the application of maths in the workplace and career options.
As part of a team of 8 researchers, I delivered a presentation that included:
1. What my undergraduate studies were, and how maths featured in the curriculum (agricultural engineering)
2. An example of PhD work (animal breeding and gene mapping)
3. An example of ealy Postdoc work (mapping in psychiatric studies)
4. An example of current work (population structure)
This was followed bya a Q&A session with stutentd and staff.
The school reported that the pupils were very interested having seen the breath of careers maths can be useful in, and the younger pupils found that the talks were helpful in guiding their future academic choices.
One of the pupils has gone on to study biology and statistics at St Andrews and was keen to find out more JGHS faculty put her in touch directly and I arrange a vistit for her to talk to colleagues in 2019.
The event will in principle run in 2019 as well, and has provided the school with a welcome direct link with quantitative scientists they can get pupils in touch with to discuss carreer options.
Year(s) Of Engagement Activity 2018