Visiting Professor Seminar

“Genetics of Congenital Heart Disease”

Bernard Keavney, British Heart Foundation Professor of Cardiovascular Medicine

Friday, March 24, 1-2 p.m.



Professor Keavney is a British Heart Foundation Professor of Cardiovascular Medicine and a Consultant Cardiologist at Central Manchester University Hospitals NHS Trust, where he is the Director of the Institute of Cardiovascular Sciences, and the Director of the Cardiovascular, Metabolic and Nutritional Science Research Domain in the Faculty of Biology, Medicine and Health.

His main research interest is in the genetics of complex cardiovascular diseases. Notable contributions to the 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 [2010]); 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).

His group is 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, and using next-generation sequencing, iPSC modelling and genome-editing approaches to further define the genetic architecture of congenital heart disease. Presently, his clinical focus is on inherited cardiovascular diseases, where he is part of an integrated service for affected patients and their families in the Manchester Heart Centre and the Manchester Centre for Genomic Medicine.

He currently serves as Chair of the UK Biobank International Scientific Advisory Board, as Lead for the Genomics England Clinical Interpretation Partnership Cardiovascular Domain, and as a member of the Medical Research Council’s Populations and Systems Medicine Board.