Uncovering hidden genetic causes of sudden cardiac death with long-read sequencing
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Inherited cardiac disorders are a leading cause of sudden cardiac death — but uncovering their genetic roots isn’t always straightforward, especially when variants sit in complex genomic regions.
In this webinar, researchers at the University of Auckland share how they investigated DMPK repeat expansions and their link to inherited cardiac disease.
Discover how long-read sequencing on the PromethION 2 Integrated identified a pathogenic repeat expansion that standard tests missed — and why integrating repeat expansion analysis into diagnostic and post-mortem workflows could transform risk assessment and family management.
Meet the speakers
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Polona Le Quesne Stabej, PhD., Senior Research Fellow, The University of AucklandDr Stabej is a Senior Research Fellow at the University of Auckland and Principal Investigator of a Pūtahi Manawa (Healthy Hearts for Aotearoa New Zealand Centre of Research Excellence) funded project on inherited cardiac diseases. Her research focuses on families who remain undiagnosed after standard genetic testing. Using Oxford Nanopore long-read genome sequencing and advanced genomic analysis, she investigates hidden genetic causes of inherited heart conditions and sudden cardiac death in young people. By combining research sequencing, expert variant interpretation, and clinical collaboration, she translates genomic discoveries into actionable diagnoses for patients and families across New Zealand.
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Zoe Ward, PhD, Research Fellow, The University of AucklandDr Ward is a Research Fellow and Bioinformatician at the University of Auckland, working within the Inherited Cardiac Disease programme and the Precision Medicine Initiative. Her research focuses on translational genomics, rare disease diagnostics using bioinformatics pipelines for short and long-read sequencing. She is particularly interested in improving variant interpretation and uncovering the genetic basis of inherited cardiac disorders and sudden cardiac death.
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Eli MrKusich, PhD, Associate Director Regional Marketing, Oxford Nanopore TechnologiesDr Eli Mrkusich is Associate Director of Regional Marketing for Australia, New Zealand and Southeast Asia at Oxford Nanopore Technologies. Based in Melbourne, he supports regional engagement and the adoption of nanopore sequencing across research and clinical applications. He has a particular interest in translating advances in genomics into accessible and impactful applications for researchers and healthcare communities.
