Research Focus
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.
Gallery
Research Projects
Current Research Projects
Functional genetic screens to identify breast cancer risk genes
Investigation of the relationship between germline cancer risk and immune responses
Identification of the target genes at cancer risk loci
Funding
- Tour de Cure 2025 "Chromatin modifiers as breast cancer therapeutic targets"
- NHMRC Ideas (2020-2022). Investigating the role of breast cancer susceptibility genetic variants in immune surveillance.
- US Department of Defense Breakthrough Award (2019-2022). Systematic Identification, Validation, and Evaluation of Breast Cancer Risk Genes Through Follow-Up of Genomewide Association Studies
- QIMR Berghofer Seed Funding (2019-2020). Breast cancer risk gene discovery using primary mammary epithelial cells
- NHMRC Project Grant (2017-2020). Identification of target genes at breast cancer-risk loci with potential for drug repositioning
Publications
Tuano et al., CRISPR screens identify gene targets at breast cancer risk loci. Genome Biol. 24, 1–23 (2023).
Fachal et al., Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat. Genet. 52, 56–73 (2020).
Zhang et al., Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nat. Genet. 52, 572–581 (2020).
Student Projects
Further Information
- Professor Douglas Easton
- Dr Kyriaki Michailidou
- Professor Antonis Antonio
- Associate Professor Sefi Rosenbluh
- Professor Sunil Lakahni
- Associate Prof Amy McCart Reed
- Associate Professor Peter Simpson
- Professor Joseph Powell