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Clinical Cardiac Genetics

We are focused on understanding the clinical, genetic and psychological aspects of genetic heart diseases and working out ways to improve the care of these families.

We are focused on understanding the clinical, genetic and psychological aspects of genetic heart diseases and working out ways to improve the care of these families.

Sudden cardiac death (SCD) occurs in 35,000 people each year in Australia (i.e. 1 death every 15 minutes) and the impact in life-years lost is greater than all individual cancers and most other leading causes of death. In those aged 35 years and under, the most frequent cause of SCD is an underlying inherited heart disease. Hypertrophic cardiomyopathy (HCM) is the most prevalent, affecting up to 1 in 200 people, and highlights that these are not necessarily rare diseases.

The focus of our research is to improve the management and outcomes of families with genetic heart diseases. There are many aspects of care that are not well understood, and contemporary disease management guidelines are based mostly on expert consensus opinion rather than evidence. Further delineating the genetic basis of these diseases, as well as improving clinical outcomes are key areas. For example, better risk prediction for SCD and better understanding the influence of socioeconomic status on poor clinical outcomes is needed.

Attending to the psychological care needs of families is an area needing urgent attention. Our direct experience with the patients will ensure that research translation is a priority, with a goal to improve care of these families.

Dr Jodie Ingles

Dr Jodie Ingles, BBiomedSci, Grad Dip Genetic Counselling, PhD, MPH is an early career researcher (NHMRC/National Heart Foundation co-funded Early Career Fellow 2012-15). She has been a cardiac genetic counsellor for 11 years, undertaking research for the past 7 years. She has a current New Investigator NHMRC Project Grant (2014-16). At 3-years post-PhD, she has 43 publications in high ranked journals and 2 book chapters. Since 2011, she has been an invited speaker 12 times at major international meetings, as well as presenting 11 abstracts (poster/oral). She has won a number of awards, i.e. Rita and John Cornforth Medal for PhD Achievement, and the CSANZ Affiliate’s Prize. She completed a Master of Public Health (2014), University of Sydney. She is involved in professional activities, as a board member and incoming chair (2016) of the Allied Health, Scientists and Technologists Council, CSANZ. She established the Australian Genetic Heart Disease Registry and is National Coordinator.

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