Congenital heart disease (CHD) is the leading cause world-wide of birth defect-associated infant illness and death. In Australia, 1/100 children are born with heart malformations which treatment constitute the highest expenditure on cardiovascular conditions ($20b/y). Thus, understanding the underlying cause of congenital heart disease (CHD) is paramount to the development of preventive care. However, the aetiology of CHD remains largely unknown.
My research proposes a paradigm-shift in our endeavour to identify novel genetic causes for CHD. As CHD affects different domains of the heart, we will unravel novel biomarkers for different cardiac malformations by including, for the first time, localisation information. This is only possible now owing to the recent advancement of “spatial-omics” technologies that my laboratory trailblazed world-wide in the past 5 years since its inception.
My vision is to unravel the genomic “google map” of the heart, so we can navigate it to rapidly identify biomarkers specific for each cardiac defect, to empower personalised diagnosis, treatment and prevention of CHD.
Last updated12 March 2024