Genetic Epidemiology

The Genetic Epidemiology group was one of the foundation groups in the University’s Institute. Its senior members include Professor Paul Burton, Professor of Genetic Epidemiology; Professor Martin Tobin, MRC Clinician Scientist Fellow in Genetic Epidemiology; Dr Nuala Sheehan, Reader in Statistical Genetics; and Professor John Thompson, Professor of Epidemiology. Other current members of the group include Dr Ron Hsu, Senior Teaching Fellow.

The group currently supervises 4 PhD students. The Genetic Epidemiology group has particularly close research links with the Department of Genetics (Professor Burton, Professor Tobin and Dr Sheehan hold joint appointments with the Department of Health Sciences and the Department of Genetics), with the Department of Cardiovascular Sciences (Professor Nilesh Samani), and with internationally renowned researchers in Bristol, London, Leeds, York, Oxford, Aarhus, Oslo, Lubeck, Paris, Göttingen, Seattle, Perth and Montreal. Research income to the group over recent years includes major grants from the Medical Research Council, the Wellcome Trust, The European Union, the British Heart Foundation, UK Biobank and the Leverhulme Trust.

 

The Genetic Epidemiology group has strengths in the following research areas:

(i)        Investigating the genetic and environmental determinants of complex diseases

The applied research program of the group investigates the determinants (environmental and genetic) of common diseases with the aim of elucidating the biological mechanisms that influence human health and disease and thereby inform new preventive and treatment strategies. The group leads applied genetic epidemiology research projects and also has links with a number of large epidemiological studies nationally and internationally, with a particular focus on cardiovascular diseases. These include the identification of genetic variants associated with blood pressure, myocardial infarction and related cardiovascular phenotypes, using genome-wide, candidate region approaches and subsequent functional and physiological studies.

We also provide leadership in “genomic epidemiology” initiatives such as the UK Biobank, the P3G and PHOEBE initiatives. The group is closely involved with the family-based GRAPHIC (ambulatory blood pressure) study, the EU Cardiogenics project, the Wellcome Trust Case Control Consortium and has links with the Avon Longitudinal Study of Parents and Children (ALSPAC) study , the 1958 Birth Cohort and the EPIC Norfolk Study.

 

(ii)       Developing statistical methodologies for studying the genetic and environmental determinants of complex diseases

The methodological development of the group mainly focuses on the joint modelling of multiple and related outcomes in epidemiology/genetic epidemiology studies. Current projects include causal inference using instrumental variables for mendelian randomization approaches to circumvent the confounding that affects traditional epidemiology studies; impact of measurement error and relationship miss-specification on genetic epidemiology analyses and development of approaches to check and adjust for these; developing approaches for genome-wide association; methods underpinning the study of copy number variation (a type of human genomic variation that has, to date, been under-recognised); methods of modelling circadian variation; incorporating different classes of phenotypic information and adjusting for treatment effects in the study of common complex diseases; methods of modelling family data in genetic epidemiology studies including McMC approaches, graphical modelling approaches and dealing with ascertainment bias.

 

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