Public health

Understanding genetic heart disease and sudden death

Wednesday, 17 May 2017

Professor Chris Semsarian is a molecular cardiologist who had dedicated his career to identifying genes that cause heart disease and elucidating exactly how those gene defects activate signalling pathways leading to disease.

Over the last 10 years his research has identified new genes involved in cardiomyopathies and sudden cardiac death in the young.

His discovery that some families with severe hypertrophic cardiomyopathy carried mutations in two genes associated with the disease led a paradigm shift in the understanding of genetic diseases that helped explain what was, for many decades, a seemingly unexplainable condition.

It resulted in improved diagnosis and preventative therapies for people at risk of sudden cardiac death and the generations of families ahead of them who will also be affected by the condition.

This year Professor Semsarian was made a Member of the Order of Australia for his significant service to medicine in the field of cardiology.

Here he talks to the limbic about accepting the prestigious award and his latest research.

 Congratulations on receiving the Order of Australia, can you tell us what recognition like this means to you and the people who have supported you?

 I accept the award on behalf of many people – my parents, who came to Australia as immigrants over 50 years ago, my family, my colleagues, my friends, and above all, my patients – the award is for service to them to improve their health.

Can you describe the aim of your latest research in a few words?

Understanding why young people die suddenly, and to ultimate develop treatments and strategies to prevent sudden death in our communities.

What have you discovered in this area so far? 

We have discovered many genetic faults in patients with a variety of inherited heart diseases, and used both their clinical and genetic information, to improve diagnosis and to target treatment and prevention strategies.

What aspect of this research excites you the most?

Without a doubt – what we discover today may improve the care of my patients tomorrow.

What’s your Holy Grail – the one thing you’d like to achieve in your research career?

To cure genetic heart disease. We’ve done the hard work to find the genetic causes (spelling mistakes in our DNA) of heart disease in the young, and now we are developing ways to correct the gene mutations, which may ultimately cure disease.

What is your biggest research hurdle?

The main hurdle is funding. We all struggle every year to secure funding for our research. No funding means no research, and a loss of a whole generation of potential outstanding young researchers.

Who has inspired you and why?

My PhD supervisor Professor Bob Graham inspired me to pursue research even though I was pretty happy as a simple cardiologist. He taught me the thrill of research discovery. My parents have always inspired me – they came to Australia and financially very poor. We lived in housing commission for nearly 20 years. But they were always rich in love, rich in care, and always worked very hard.

Describe your perfect day

Perfect day has to be a Saturday – 5km walk on a sunny Sydney morning, take the kids to soccer and netball, relaxing afternoon, and watch the mighty South Sydney Rabbitohs win! In terms of perfect work day – June 23, 2016 – our world first study of sudden death in the young is published in the New England Journal of Medicine – the most prestigious medical journal in the world – the Everest of journals!

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