DNA REPAIR ON THE FANCONI ANAEMIA PATHWAY
Associate Professor Wayne Crismani
Laboratory Head, DNA Repair & Recombination
St Vincent’s Institute of Medical Research,
Melbourne, Australia
RESEARCHER PROFILE
Filmed in Melbourne, Australia | August 2025
Associate Professor Wayne Crismani is an internationally recognised expert in DNA repair, with a particular focus on Fanconi anaemia (FA)—a cancer-predisposition and bone marrow failure syndrome marked by extreme sensitivity to DNA damage. Based at St Vincent’s Institute in Melbourne, he leads a research program dedicated to understanding the genetic, cellular, and reproductive consequences of FA. He is currently supported by a Victorian Cancer Agency Mid-Career Fellowship and funding from the National Health and Medical Research Council.
His career spans academia and industry across Australia, Europe, and the United States. He has contributed to several advances in FA genetics, including the identification of new functions of FA genes, particularly in reproduction, development of isogenic cell models, and use of high-throughput functional and screening assays. He has also demonstrated that FA is under-diagnosed in Australia, which has major consequences for these individuals and for the public healthcare system. His research has been published in top-tier journals and underpins several patents, including technologies that have been successfully licensed.
Associate Professor Crismani also leads multidisciplinary studies investigating fertility and cancer risk in individuals with FA. These include the first systematic study of biological parenthood and assisted reproductive technologies in adults with FA, and efforts to identify early biomarkers of oral cancer in this high-risk group. His work is conducted in close collaboration with scientists, clinicians, fertility specialists, and patient advocates. He co-founded Fanconi Anaemia Support Australasia with a group of families in 2019 and continues to organise scientific and social events for the FA community.
He works with international FA registries, research consortia, and the Fanconi Cancer Foundation to ensure research findings inform real-world care. His program bridges molecular biology, reproductive health, and translational science, with the goal of improving health outcomes for people with FA and genetic conditions.
Source: Supplied
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Biostatistics in Clinical Trials
As a biostatistician working in research and clinical settings, Kate Francis plays a vital role in ensuring all projects adhere to best practice guidelines and are transparently reported. She has served as the lead statistician for the analysis of clinical trials across a broad range of subject areas, including neonatal resuscitation, BCG for allergy and infection, convulsive status epilepticus and her work has been published in the top journals such as The New England Journal of Medicine, JAMA, and The Lancet. Most recently she was awarded the 2025 Excellence in Trial Statistics Award for her work on the PLUSS trial.
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Ocular disease and early onset myopia
Dr Mountford has successfully established Western Australia’s first and only ocular genetic screening platform using zebrafish and utilises this model to help elucidate some of the complex gene-environment interactions responsible for the development of myopia.
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Interventions for improving outcomes of children who are deaf or hard of hearing
Professor Teresa Ching is a Conjoint Professor at NextSense Institute and Macquarie University, and an Honorary Professor at the University of Queensland in Australia. Her current research focuses on devising culturally sensitive practices in early detection and intervention to maximise children’s outcomes. Working with international colleagues, her current research is also directed towards developing global guidelines and recommendations for hearing screening beyond the newborn period, so that all children can benefit from early detection and intervention. The ultimate goal is to attain equity of care and outcomes for all children with hearing difficulties.
