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Research Seminar 25 May 2017


Research Seminar

Centre for Genomic Sciences

Moving Beyond Genome-wide Association
Studies through the Modelling of
More Complex Mechanisms

Professor Heather J Cordell

Professor of Statistical Genetics
Wellcome Senior Fellow in the Institute of Genetic Medicine
Newcastle University, UK

25 May 2017 (Thu)
15:00 pm – 16:00 pm

Seminar Room 7, 7/F
The Hong Kong Jockey Club Building for Interdisciplinary Research
5 Sassoon Road, Pokfulam, Hong Kong


Over the past 10-12 years, genome-wide association studies (GWAS) have been extraordinarily successful at identifying genetic variants associated with common, complex disorders. However, a typical GWAS gives little insight into the underlying biological mechanism through which the associated genetic variants are implicated in disease. In this talk I shall outline two strategies we have been exploring to help elucidate the underlying causal mechanisms leading to an observed association. One strategy has been through the development of methods for detection of parent-of-origin effects. Parent-of-origin effects, particularly if mediated through mechanisms such as imprinting, represent a more complex, potentially functionally relevant finding than the genetic effects that are typically identified through large-scale case/control GWAS. The requirement for parental data necessarily limits the power of studies designed to detect such effects, however suitable cohorts (particularly of mother/child duos) are often collected, for example, when investigating traits related to pregnancy complications. Genetic variants identified through such investigations still represent the first step along the causal pathway to disease development, and the second strategy we have been exploring attempts to clarify the underlying causal mechanisms through modelling relationships between genetic factors, factors that are potential mediators (such as DNA methylation and gene expression), and disease outcomes. We focus on methods that assume at least a proportion of subjects will have measurements on all variables of interest (genetic data, "omics" measures such as DNA methylation and gene expression, and variables related to disease phenotype). I will outline the methodological approaches we have been taking in relation to both strategies and will present the results of computer simulations and real data analyses illustrating the utility of these approaches.

About the Speaker:

Heather Cordell is Professor of Statistical Genetics and a Wellcome Senior Fellow in the Institute of Genetic Medicine at Newcastle University, UK. Heather obtained her undergraduate degree in Mathematics from Cambridge University, UK, followed by an MSc in Applied Statistics (1992) and a DPhil (PhD) in Mathematical Genetics (1995) from Oxford University, UK. She then spent three postdoctoral years at Case Western Reserve University in Cleveland, Ohio, USA. From 2000-2004 Heather held a Wellcome Trust/JDRF Career Development Fellowship at the Department of Medical Genetics in Cambridge, UK, and in October 2004 she took up a Wellcome Senior Fellowship at the same department. In 2006 Heather moved to Newcastle University to take up the newly-established Chair of Statistical Genetics. The research interests of Heather's group are the development and application of statistical methodology to genetic studies of complex disease. In addition to being involved in a number of applied studies, Heather's research includes the development of methods for detecting linkage/association (including maternal and parent-of-origin effects) using family-based data, and the modelling of effects at multiple disease loci (including interaction effects) simultaneously. Heather was a member of Board of Directors (2006-2012), is currently Secretary (2016-2019), and was 2010 President of the International Genetic Epidemiology Society (IGES).



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