Cardiovascular disease and the Busselton Family Heart Study

Cardiovascular disease (CVD) is the leading cause of death in the world, including Australia. Genetics has a major role in the risk of CVD, but overall this is poorly understood. Evidence is now emerging that rare genetic variation is a likely major contributor to heritable risk of CVD. Large, densely affected families, in combination with whole genome sequencing, is proving to be a powerful approach for discovery of rare genetic risk factors for complex diseases such as CVD.

In the ‘Busselton Family Heart Study’, we are using whole genome sequencing in large families with CVD. We aim to identify novel genetic risk factors for CVD in these families by studying blood lipids as intermediate quantitative traits that are associated with CVD risk. 

Working in collaboration with our international networks, we will evaluate the diagnostic and predictive value of these genetic risk factors in large cohorts of patients affected by CVD. 

Under the guidance of project team lead Professor Eric Moses, we hope that identification of causal genetic risk variants will enable earlier identification of individuals at high risk. This will allow clinicians to implement targeted lifestyle and other interventions to treat and prevent CVD.

This project was awarded more than $2 million in funding from the National Health and Medical Research Council in 2016.

Research within this project can be tailored to suit an honours, master’s or PhD student.

This project would suit a student interested in pursuing a research interest in statistical genetics/bioinformatics.

Interested students would need to have a good understanding of statistics (e.g. use of SPSS or R), and programming experience would be an advantage.

If you meet the eligibility criteria and would like to discuss a proposal, contact Professor Eric Moses.

Readings

If you would like to read more about the Busselton Health Study, view the below.

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.