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The role of genetic burden in congenital heart disease and translation into patient care

Dr Gillian Blue, Institution: University of Sydney

2017 Postdoctoral Fellowship

Years funded: 2018-2021


In Australia over 2,000 babies are born with congenital heart disease (CHD) each year. With the majority surviving cardiac surgery, the adult CHD population now outnumbers the paediatric population, presenting a growing population health concern with significant implications for the health care system.

Importantly, as this growing patient population approaches reproductive age, the causal genetic variants are retained and passed on to subsequent generations.

Understanding the heritable component of CHD to prevent, or at least ameliorate disease severity, inform reproductive choices and educate patients about the increased recurrence risk, is therefore crucial.

This project will directly address the big issues in CHD genetics by studying genetic variation and how it contributes towards disease severity, disease expression and disease presentation using existing whole genome sequencing data.

Furthermore, as research results with direct clinical utility are increasingly generated for this patient population, there is now more than ever, a pervasive and unmet need for a formal clinic structure with the required multidisciplinary framework, including clinical, counselling and scientific resources, to address the increasing diagnostic prospects and associated psychosocial aspects for this patient group.

This study will evaluate the effectiveness of a multidisciplinary clinic in translating research into patient care.

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