My main research interest is in the genetics of complex cardiovascular diseases. Among contributions my colleagues and I have made to this field are: the first demonstration of limited haplotype diversity over long distances in the human genome (1996); the first success in trans-ethnic fine mapping of a complex genetic trait in man (1998); the first large-scale genetic studies of myocardial infarction (2000-2004); the introduction of the approach known as “Mendelian Randomisation” into genetic epidemiology (2001); several large-scale meta-analyses of genetic associations with myocardial infarction (2005-2008); demonstration of the mechanism involved in the association between MI and its strongest common genetic risk factor (polymorphisms at CDKN2B-AS1 ); demonstration of association between copy number variants in the human genome and sporadic congenital heart disease (2012); the first published genome-wide association studies of congenital heart disease (2013); studies applying insights from GWAS to successfully predict side-effects of commonly used new drugs (2014); and contributions to exome-sequencing studies in congenital heart disease (2016).
My group are now chiefly interested in understanding the functional biology underlying some of the many genetic associations with complex cardiovascular diseases that have been detected in genome-wide association studies (including our own work), and using next-generation sequencing, iPSC modelling and genome-editing approaches to further define the genetic architecture of congenital heart disease.
Human genetic studies of cardiovascular disease
Investigation of expression QTLs
Meta-analyses of genetic data
Functional studies of genetic mutations and polymorphisms
Interpretation of largescale genetic datasets
Clinical cardiology, including coronary intervention and inherited cardiac disease
Non-invasive and invasive phenotyping of cardiovascular disease