Associate Professor Pascal Duijf

A/Prof Pascal Duijf obtained a Bachelor's degree in Biology and a Master's degree in Medical Biology from the Radboud University Nijmegen in the Netherlands and was awarded two scholarships that enabled him to gain research experience in cell biology at Harvard Medical School in Boston, MA in the United States.

He then pursued a PhD degree in Human Molecular Genetics at the Radboud University Nijmegen Medical Centre. Under supervision of Professor Han Brunner and Professor Hans van Bokhoven, his research established genotype-phenotype correlations for a variety of human congenital disorders that are caused by germline mutations in the TP63 gene and are characterised by developmental abnormalities of the limbs, ectodermal structures and/or lip/palate.

For his postdoctoral research, A/Prof Duijf moved to the United States. At Memorial Sloan-Kettering Cancer Center in New York, he studied how chromosome instability and aneuploidy contribute to cancer development and progression. Using systems approaches, his research showed that cancer cells preferentially lose small chromosomes, although, paradoxically, gains of chromosomes predict poor prognosis in ovarian cancer. In addition, his research demonstrated that chromosome instability can be rescued in a p53 mutant mouse tumour model. This was a significant observation, as it indicates that targeting chromosome instability in human tumours will be an effective strategy to treat cancer patients.

In 2013, A/Prof Duijf established his independent research group at the University of Queensland Diamantina Institute and the Translational Research Institute in Brisbane, Australia. His research focuses on identifying the causes and consequences of genomic instability in the development of cancer (see also 'Research Interests' below for more details). He aims to translate this knowledge into the development of cancer diagnostic, therapeutic and precision medicine approaches. To achieve this, he uses a broad range of methods, including mouse modelling, genome editing, microscopy, cell and molecular biology, molecular pathology, proteomics and computational systems genomics.

As a group leader, A/Prof Duijf's major contributions to the research field have included:

1. Using machine learning, a form of artificial intelligence, identification of 31 chromosome arm aneuploidies that robustly alter response to 56 chemotherapeutic drugs across cell lines representing 17 types of cancer (Shukla et al 2020, Nature Communications). This may ultimately improve precision oncology.
2. Pan-cancer identification of aneuploidies that drive tumour evolution and predict good or poor patient outcome (Shukla et al 2020, Nature Communications).
3. Identification of genes whose overexpression promotes genomic instability and/or tumour development (e.g., Emi1, COL17A1, CENPI and EEF1A1) and the underlying mechanisms. PMIDs: 27065322, 27891193, 28977935, 30224719.
4. Identification of the key genomic factors that predispose to cancerous translocations (i.e., acrocentrism and open chromatin state). PMID: 29316705.