A/Prof Mark Cowley

BSc (Bioinf)(USYD), PhD (UNSW)

Deputy Director, Enabling Platforms & Collaboration and Group Leader 


Research theme

Personalised Medicine

Research group

Computational Biology


Associate Professor Mark Cowley is Deputy Director (Enabling Platforms and Collaboration) at Children's Cancer Institute. In 2018, Mark joined the Institute to establish the Computational Biology Group. He now holds several leadership positions, including Head of the Luminesce Alliance Data Enabling Platform, co-Head of the ACRF Childhood Cancer Liquid Biopsy Program, and President of Australasian Genomic Technologies Association (AGTA), the peak body in the region.

Mark is a computational biologist whose main expertise is in genomics and precision medicine. He is best known for his translational bioinformatics research, having pioneered the use of whole genome sequencing to undercover the molecular basis of many diseases, including childhood and rare cancers, kidney, mitochondrial and other rare genetic diseases. His early research led to three of the first clinically accredited whole-genome-sequencing-based pathology tests in the world, two Medicare reimbursed tests, and at least one TGA approved therapy. Mark’s research program has developed over 20 software solutions that provide insights into genome biology, or support the delivery of national-scale precision medicine programs.

By developing the digital infrastructure that underpins the Zero Childhood Cancer clinical trial, Mark and his multi-disciplinary team are attempting to bridge the gap between vast amounts of molecular data and improved health outcomes, through making molecularly informed treatment recommendations in real-time for children with cancer.

“Our aim is to improve outcomes for patients by understanding the molecular drivers of their tumours. We can use this data to improve outcomes in patients today, through making better treatment recommendations, as well as long-term to better understand cancer,” Mark says.

His research program also investigates the impact of ‘non-coding mutations’ of children with cancer – mutations that occur in parts of the genome that don’t encode genes yet are thought to be important in other ways. 


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Good Design Award, Best in class (Service Design Category): ZeroDash: accelerating precision medicine for children with cancer, 2023

Genomic medicine year in review: 2021, top 10 key advances in precision medicine (for PMID:33020650), 2021

Children’s Brain Tumour Network (CBTN) Global Inclusion Champion, 2021

European Association for Cancer Research (EACR)’s Top 10 Cancer Research Publications: February 2021 (PMID: 32499442), 2021

ABACBS mid-career researcher award, 2020

NSW Health - 2020 NSW Health Award for the Zero Childhood Cancer Program

Eberhard Mammen Seminars in Thrombosis and Haemostasis Most Popular Article Award, 2020

UNSW Promoting High Quality Research Papers Scheme Award, for Zammit et al, Nat Immunol. 2019 Oct;20(10):1299-1310 (PMID: 31534238), 2019

UNSW Promoting High Quality Research Papers Scheme Award, for Palmer et al, Am J Hum Genet. 2019 Mar 7;104(3):542-552 (PMID: 30827498), 2019

UNSW Promoting High Quality Research Papers Scheme Award, for Bagnall et al, J Am Coll Cardiol. 2018 Jul 24;72(4):419-429 (PMID: 30025578), 2019

Wildfire Award, Cancer Institute NSW (most highly cited paper of the year, PMID: 26909576), 2019

Wildfire Award, Cancer Institute NSW (most highly cited paper of the year, PMID: 25719666), 2018

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