Jonathan Beesley

Associate Professor | Team Head

Genome Variation and Regulation in Disease

+61 7 3362 0388

Jonathan.Beesley@qimrberghofer.edu.au

CAREER HISTORY

After completing my PhD at the University of Queensland in 2005, I joined the Cancer Genetics Laboratory at QIMR Berghofer led by Professor Georgia Chenevix-Trench. I was involved in genotyping projects with several international consortia aiming to identify germline variation associated with risk of breast and ovarian cancers. As sample sizes grew, these projects evolved into genome-wide association studies, including the first of cancer risk, published in a landmark paper in Nature in 2007. Fortunate to be part of several international consortia, I became more involved in computational analysis of large-scale genetic and functional genomics data. I was appointed Team Head in 2021, now leading the Genome Variation and Regulation Laboratory where we use both dry and wet lab approaches to investigate molecular mechanisms highlighted by GWAS discoveries, ultimately aiming to find better treatments for several common cancers.

CURRENT APPOINTMENTS

• 2021-present: Team Head, Genome Variation and Regulation in Disease, QIMR Berghofer
• 2020-present: Adjunct Associate Professor, Faculty of Health, Queensland University of Technology

PREVIOUS APPOINTMENTS

• Senior Research Officer, Cancer Genetics Laboratory, QIMR Berghofer
• Research Officer, Cancer Genetics Laboratory, QIMR Berghofer

ORCID NUMBER

0000-0003-1942-325X

CURRENT AREA OF RESEARCH

My team in the Genome Variation and Regulation in Disease Laboratory are interested in how human genetics contributes to disease and how we can use these discoveries to find better treatments. We integrate large-scale genetic and functional genomics data to guide computational analyses and laboratory experiments. We are using a diverse array of approaches including pooled functional genetic screens, multiplex reporter assays, and genome editing to pinpoint the causal genetic changes, their target genes and pathways, and the cell types in which they act.

RESEARCH HIGHLIGHTS

• The largest GWAS of cancer risk, including the target gene prediction pipeline INQUISIT, published in Nature 2017
• Fine-mapping of 200 breast cancer risk signals, Nature Genetics 2020
• Identification of breast cancer target genes using promoter capture Hi-C, published in Genome Biology 2020
• Contributed to the genetic, bioinformatic and experimental analyses, leading to the discovery of NTN4 as the target gene at the 12q24 breast cancer risk locus, published in the American Journal of Human Genetics 2020
• Identification of pleiotropic risk loci for multiple cancers, Cancer Discovery 2016
• Bioinformatic analysis for the largest GWAS of ovarian cancer risk, published in Nature Genetics 2017
• Computational and functional analysis of genetic variants at the telomerase gene, associated with breast and ovarian cancers, published in Nature Genetics 2013
• Co-authored the highly cited review of the post-GWAS literature, published in the American Journal of Human Genetics 2013,
• Contributed to genotyping for the first GWAS of cancer risk, published in Nature 2007

PROFESSIONAL MEMBERSHIPS

• American Society of Human Genetics
• The Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer (kConFab)
• NHMRC Ideas grant review panel member

AWARDS RECOGNITION

• QIMR Berghofer Post-doctoral Prize 2018

EDUCATIONAL BACKGROUND

• PhD, University of Queensland 2005
• BSc Hons, University of Queensland 1999