Mark Cowley

Background

About Mark Cowley

Associate Professor Mark Cowley Deputy Director, Children’s Cancer Institute Career Summary BSc(Bioinf)(Hons) 2003, PhD 2009, Mark Cowley is an internationally recognised computational biology researcher (14 years post-PhD, 7 years PI) with expertise in human genomics, cancer genomics and precision medicine. At the Children’s Cancer Institute, Mark is the Deputy Director (Enabling Platforms and Collaboration: 2023+), head of the Computational Biology Group (2018+), co-head of the Luminesce Alliance Data Enabling Platform, co-head of the ACRF Child Cancer Liquid Biopsy Program, the Genome Informatics Leader and Data Enabling Platforms Leader of the ZERO Childhood Cancer Program, and conjoint Associate Professor at UNSW. Prior to this, Mark spent 11 years at Garvan Institute (2007-18), eventually leading the Translational Genome Informatics and Cancer Genomics Programs at the Kinghorn Centre for Clinical Genomics. Research Support Since 2014, total funding of $64.0M,$10.75M as lead investigator Field of Research Contributions 144 publications (115 in last 10 years), 23 as first/senior author, including Nature (5), Science, Cell and Nature Medicine; total citations (Scopus),>16,600(Google Scholar), h-index 48. AGTA president, committee member for ZERO, CONNECT, CMI-ANZ, AGTA, Thomas Ashworth Symposium, Minderoo Federated Cancer Data Initiative. Research Impact As an early adopter of whole genome sequencing, and by creating over 25 bioinformatic tools, pipelines and databases, Mark’s research program has been instrumental to the uptake of precision medicine in Australia. Mark contributed to characterising at least 19 rare disease genes and demonstrated a new diagnostic paradigm based on whole genome sequencing (WGS) in several diseases. His methods have resulted in three ISO15189 clinical accredited tests and two MBS items, used to diagnose hundreds of Australian patients through the world’s first WGS-based pathology test for patients with Mendelian, cardiovascular, mitochondrial and kidney diseases. Most recently, Mark’s leadership of the genome analytics for the ZERO program has led to a national change of practice in the diagnosis and treatment of children with high-risk cancer, as described in a co-senior author Nature Medicine publication (2020). This has led to significant funding from the Federal Government (MRFF) and Minderoo Foundation to launch ZERO2, a national-scale paediatric cancer precision medicine program where all Australian children and young people (<= 18) are eligible for comprehensive precision medicine molecular testing.