In my research I find ways of harnessing the power of omics, mainly genomics data, for personalised medicine purposes.

I have been studying genetics of inherited cardiovascular diseases since my PhD project at the UCL Genetics Institute. In my thesis and later postdoctoral work I have been looking at the genetic architecture of Familial Hypercholesterolaemia (FH), a disease of high LDL-cholesterol. My studies included analysis of the monogenic FH mutation spectrum, and investigation of the polygenic cause of hypercholesterolaemia using ‘gene score’ approaches. In collaboration with the Wellcome Trust UK10K project and more recently the 100,000 Genomes project, I have been investigating novel causes of FH using next generation sequencing (NGS) of whole exomes and genomes. I have also developed a targeted NGS assay as a routine method for diagnosis of FH in our lab.

More recently I have been applying my bioinformatics and statistical genetics skills to help understand the genetic causes of heart muscle diseases, mainly focusing on arrhythmogenic right ventricular cardiomyopathy and hypertrophic cardiomyopathy.