The Busselton Family Heart Study and CVD

One of the biggest causes of disease and health problems in Australia is cardiovascular disease (CVD). CVD describes a range of diseases of the heart and blood vessels, including heart attack and stroke. CVD is the leading cause of death in Australia, with more than 45,000 deaths recorded in 2015 (almost 30% of all deaths in Australia). In terms of economic burden on our health system, CVD is the most expensive disease group in Australia, costing nearly $8 billion in direct healthcare expenditure a year.

The causes of developing CVD are complex. As well as diet and lifestyle factors, susceptibility to CVD has a large genetic component. In the last decade there has been a push to better understand genetic risk factors for CVD, with the hope that individuals at high risk can be identified early and targeted for lifestyle and other interventions. The genome wide association study design has seen widespread use in the field but has not been all that successful in identifying causal genetic risk variants.

We have argued that a return to family-based study designs in combination with genome wide DNA sequencing is now an appropriate way forward to identify the missing heritability of complex diseases, such as CVD, and specifically to identify rare genetic variant risk factors likely to be at play. However, large extensively characterized family cohorts are not common, requiring a large investment in time, resources and dollars to collect these data.

In 2016, GOHaD researchers and other colleagues were awarded more than $2 million in funding from the NHMRC to study large family lineages identified in the iconic Busselton Health Study (BHS). In an innovative step, the GOHaD team have transformed this iconic population study into a unique Australian family-based resource ideally suited for the identification of genetic risk factors for CVD and other complex diseases. In ‘The Busselton Family Heart Study’, we aim to identify genomic regions for CVD risk in BHS family lineages using lipid endophenotypes (quantitative traits that are heritable and genetically correlated with disease risk). It is anticipated that the identification of causal genetic risk variants will enable early identification of at-risk individuals, and facilitate the development of new drugs to treat and prevent CVD.


  • NHMRC Project Grant 1101320 [2016-2020] “The Busselton Family Heart Study”, $2,210,036
    CIA Eric Moses, CIB Peter Meikle, CIC John Blangero, CID Phillip Melton, CIE Joseph Hung, CIF John Beilby, CIG Gemma Cadby, CIH Marie-Pierre Dube, CII Frank van Bockxmeer, CIJ Gerald Watts

Selected publications

  • Cadby, G., P. E. Melton, N. S. McCarthy, M. Almeida, S. Williams-Blangero, J. E. Curran, J. L. VandeBerg, J. Hui, J. Beilby, A. W. Musk, A. L. James, J. Hung, J. Blangero and E. K. Moses (2018). "Pleiotropy of cardiometabolic syndrome with obesity-related anthropometric traits determined using empirically derived kinships from the Busselton Health Study." Human Genetics 137(1): 45-53. [pubmed]