Genetic Epidemiology of Osteoporosis

Fracture caused by osteoporosis is a major public health problem in Australia and around the world. The lifetime risk of hip fracture (1/6) is higher than the risk of breast cancer (1/9). Virtually all fractures are associated with decreased life expectancy and reduced quality of life. The annual cost of osteoporosis in Australia is ~$7 billion. Our vision is to make a positive difference in osteoporotic patients’ lives through understanding of genomic variation and non-genomic aetiological factors to differences in osteoporosis susceptibility, and to translate this knowledge into individualised use in clinical practice and public health policy.

Our research focuses on the genetics and epidemiology of osteoporosis. Specifically, we are interested in uncovering risk factors and novel osteoporosis genes, and translating these factors into prognostic models for assessing the risk of fracture and its consequences for an individual. Our lab has demonstrated the association between postural sway, muscle weakness and fracture. We have found a link between fragility fracture and mortality. In recent years, we became interested in translational research with personalised medicine as a guiding principle. We have advanced the idea of individualised risk assessment, and have developed the world’s first nomogram for predicting fracture and hip fracture. This nomogram was subsequently implemented in a dedicated website (www.fractureriskcalculator.com).

In the mid-1990s, through a series of twin studies we have demonstrated the contribution of genetic factors to the variation in bone mineral density. Since then, our own work and international collaboration have identified several genetic variants that are associated with fracture risk. We are interested in the incorporation of the newly identified variants in the individualised fracture risk assessment.

Our lab has extensive collaborations with colleagues around the world in the fields of epidemiology and genetics of osteoporosis. We have worked with Vietnamese colleagues in Hanoi and Ho Chi Minh City to determine the prevalence of and risk factors for vitamin D deficiency and its link to osteoporosis and fracture. 

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