Associate Professor | Senior Research Officer+61 7 3362 0213
My BSc (Hons) (1997-2000) at Adelaide University and PhD (2003-2007) through Melbourne University (Supervisor Professor Richard G.H. Cotton, Genomic Disorders Research Centre) were in molecular genetics. Following a post-doctoral position at the UHI Millennium Institute, UK, (now the University of the Highlands and Islands) in 2007-2011, I returned to Australia, joining the QIMR Berghofer Medical Research Institute.
I am a statistical geneticist and bioinformatician in the Statistical Genetics Laboratory, embedded in the wider Genetic Epidemiology department. I have expertise in large data analysis, and am at the forefront of using statistical techniques to identify the genetic underpinnings of skin cancer, particularly melanoma.
2018 – current: QIMR Berghofer Senior Research Officer, Statistical Genetics
2011 – 2018: QIMR Berghofer Research Officer, Statistical Genetics
2007 – 2011: UHI Millennium Institute, UK, Post-Doctoral Research Fellow
The overarching theme of my research career is determining how genetic variation leads to skin cancers – melanoma and the keratinocyte cancers basal cell carcinoma and squamous cell carcinoma. I am also interested in the genetics of related skin traits such as skin aging. Skin cancers have a huge impact in terms of health care costs and loss of quality of life, and it is critical we better understand why people develop these conditions. I do this through large scale GWAS meta-analyses of national and international cohorts, and by applying/exploring the result of those studies. One such way I apply the results of these GWAS is through polygenic risk scores.
My ongoing involvement in melanoma gene discovery is evidenced by my membership in international melanoma consortiums (e.g. GenoMEL), and publications in Nature Genetics and the Journal of Investigative Dermatology.
I have published 53 papers since joining QIMR Berghofer. Highlights include:
I play a key role in international melanoma genome-wide association studies. I was first author on the then largest international melanoma meta-analysis (Nature Genetics 2015), and more recently I am last author and co-lead on a much larger follow up (Nature Genetics 2020). Together these projects have enabled us to identify novel genomic variants associated with melanoma risk, and estimate the magnitude of their effect. To date this work has identified over 50 regions of the genome as associated with melanoma. I have also applied polygenic risk scores derived from these results to explore familial melanoma (First Author Human Molecular Genetics 2020).
In 2012 I published a highly cited review of melanoma genetics in the Journal of Invest. Dermatol.
I have also participated in research understanding how these genetic variants modify melanocyte biology (Nature Genetics 2017 & Genome Research 2018)
I have applied my statistical genetics skills to other important traits of the skin including skin aging (First Author Journal of Invest. Dermatol. 2017), and keratinocytic skin cancers (Human Molecular Genetics 2019).
2020-onwards – Organising committee for the 15th GeneMappers Conference
2020-onwards: QIMR Berghofer Higher Degree Research Committee
2017-2018 – Organising committee for the 13th GeneMappers Conference
2017- onwards: GEM melanoma consortium
2017- onwards: Cross-cancer GWAS meta-analysis Working Group
2017- onwards: Fatty Acids Mendelian Randomisation Working Group
2013- 2020: Founding member of the QIMR Berghofer Post-Doctoral committee; Committee Treasurer and sponsorship co-ordinator
2012- onwards: Member of the American Society of Human Genetics
2011- onwards:: GenoMEL melanoma consortium
2007: PhD Molecular Genetics, University of Melbourne, Australia
2000: BSc(Hons) Genetics, University of Adelaide, Australia