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Polona Le Quesne Stabej is a Senior Research Fellow in the Faculty of Medical and Health Sciences at the University of Auckland, where she has worked since 2018 in the Department of Molecular Medicine and Pathology. She holds a Doctor of Veterinary Medicine degree from Ljubljana University and a PhD in Molecular Genetics from the University of Utrecht, completed between 2001 and 2005. Her early career focused on veterinary research, including studies of heart diseases in dogs and molecular genetics of canine dilated cardiomyopathy.
At the University of Auckland, Le Quesne Stabej specialises in clinical and translational genomics, integrating approaches for the interpretation of human genome variation and its role in genetic disorders. She contributes to precision health research in Aotearoa New Zealand, including the Rakeiora Genomics Platform, and collaborates with bioinformaticians, diagnostic laboratory scientists, and clinicians. Her work includes leadership in genomic medicine initiatives, such as the Genomics for Cancer Clinicians course, and recent research on DMPK 3′ untranslated repeat expansions as a potential cause of unexplained sudden cardiac death in young people. She has co-authored publications on topics including rapid paediatric sequencing and benchmarking of nanopore sequencing technologies. Le Quesne Stabej maintains an active role in advancing genomic analysis for clinical applications.
University of Auckland researchers uncover DMPK gene repeat expansions causing sudden cardiac death in teens, advancing genetic screening and precision medicine in New Zealand.
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