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Optimizing the genetic and forensic analysis of sudden cardiac death

Dr Elizabeth Paratz, Institution: Baker Heart and Diabetes Institute

2018 Health Professional Scholarship

Years funded: 2019-2021


Sudden cardiac death (SCD) occurs in approximately 1000 Australians under 50 years old annually. In the United States, the societal burden imposed in years of life lost to SCD exceeds that of all individual cancers and most other leading causes of death.

Most studies into SCD investigate a research population aged under 35 years old. However, SCD occurs ten times more frequently in people aged 35-50. Despite their increased risk of SCD, patients aged 35-50 years old have been paradoxically under-studied on a global basis, creating an evidence gap in their diagnosis and management.

Through the creation of Australia's first SCD registry, this research project will provide capacity to investigate novel questions including the causes of SCD in Australians aged 35-50 years old, optimization of first-degree relative screening, optimization of genetic
analysis of SCD patients and their relatives (the 'molecular autopsy'), and validation of the use of cardiac imaging as a post-mortem diagnostic technique (the 'virtual autopsy').

Expected cardiovascular health outcomes will be highly relevant clinically, benefiting thousands of Australians. Through increased risk identification and screening, we hope to reduce the burden of SCD in Australia. Through improved post-mortem genetic risk
modelling and cardiac imaging, we hope to provide more answers to Australians as to why their family members have experienced SCD and whether they are also at risk.

This project is co-funded with NHMRC - National Health and Medical Research Council.


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