Genome Variation and Regulation in Disease

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.


  • 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
  • Developing bioinformatic methods to predict target genes at GWAS loci
  • Exploration of opportunities for drug repositioning
  • Multiplex reporter assays to link regulatory variants to specific gene expression

Our Staff

  • Vaibhavi Joshi, Research Assistant
  • Yi Luo, PhD Student

Internal Collaborators

  • Prof Georgia Chenevix-Trench
  • A/Prof Juliet French
  • A/Prof Stacey Edwards
  • A/Prof Corey Smith
  • A/Prof Kelly MacDonald

External Collaborators

  • Prof Douglas Easton
  • Dr Kyriaki Michailidou
  • Prof Antonis Antonio
  • A/Prof Sefi Rosenbluh
  • Prof Sunil Lakahni
  • 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


Identifying the causal genes at cancer risk loci

This project is suitable for PhD or Honours students. Our laboratory is involved in genome-wide association studies (GWAS) to identify common variations underlying the risk of breast and ovarian cancers. The current challenge is in the functional interpretation of genetic association data. With this aim, we use a variety of computational approaches to define potential […]

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