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Molecular Cardiology Program

The Molecular Cardiology program is the study of genetic heart disorders. Our major goal is to reduce human disease by combining basic science research and clinical cardiology.

Our research is about saving lives because we know that many cardiovascular conditions caused by underlying genetic faults. We look to improved diagnosis and management of patients and families. Currently, we are seeing a reduction sudden cardiac death from genetic heart diseases.

 

Understanding Disease

Our research is focused on understanding the clinical and genetic basis of inherited heart disease. We use a range of approaches including human gene discovery studies, basic cellular systems, animal models of human disease, and population-based psychosocial and public health studies.

Our research involves state-of-the-art approaches including whole exome sequencing, mRNA and microRNA profiling, and RNASeq. Most importantly, we have the key clinical resources, including well phenotyped individual patients and families, which form the basis of all our genetic studies.

To get to this point, we have developed cohorts and national registries of patients and families with inherited heart diseases. We also utilise the latest in genetic technology in order to form the basis of our novel gene discovery studies.

Finding a Cure

Around 30,000 Australians die every year from sudden cardiac death. Around four young Australians, under the age of 35, die every week from sudden cardiac death.

We know that there are around 40 cardiovascular conditions caused by underlying genetic faults. We all have around 22,000 genes, but a fault in just one can result in a life threatening heart condition.

We can already see our research directly reducing sudden cardiac death in our communities. Our new gene discoveries are being used as improved diagnostic tools, we are rolling out implantable cardioverter defibrillator therapy and we are actively involved in improving public health measures.

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Professor Chris Semsarian AM, Head of Program

MBBS PhD MPH FRACP FCSANZ FAHA FHRS

Current Appointments
Head, Molecular Cardiology Program, Centenary Institute, Sydney
Professor of Medicine, University of Sydney
Cardiologist, Royal Prince Alfred Hospital (RPAH), Sydney
NHMRC Practitioner Fellow

Qualifications
1984-1989 MBBS at University of Sydney
1996 FRACP (Cardiology)
1999 PhD in Molecular Cardiology, University of Sydney
2005 FCSANZ (Fellow of Cardiac Society of Australia & NZ)
2009 FAHA (Fellow of American Heart Association)
2013 FHRS (Fellow of Heart Rhythm Society USA)
2014 MPH at University of Sydney

Prof Semsarian is a cardiologist with a specific research focus in the genetic basis of cardiovascular disease. He trained at the University of Sydney, Royal Prince Alfred Hospital, and Harvard Medical School. A focus area of his research is in the investigation and prevention of sudden cardiac death in the young, particularly amongst children and young adults. Prof Semsarian has an established research program at the Centenary Institute which is at the interface of basic science, clinical research and public health, with the ultimate goal to prevent the complications of genetic heart diseases in our community. He has published over 150 peer-reviewed scientific publications, in the highest-ranking cardiovascular and general medical journals. He is also been the primary supervisor of over 30 PhD, honours, and medical honours students since 2003, and is an active member of the mentoring program at the University of Sydney.

As a clinician scientist, understanding the genetic basis of cardiovascular disease has been the cornerstone of my research endeavours. Using an integrated translational approach in human families, murine models, and cell culture systems, my research has elucidated the genetic causes of cardiomyopathies and sudden death, identified key signaling pathways involved in development of disease, and provided a platform for this knowledge to be directly translated to cardiovascular medicine by improved diagnostic and risk stratification strategies. My research has led to the reduction of both mortality and morbidity in families with genetic heart diseases.

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Bioinformatics and Molecular Genetics

Our ability to read DNA sequence has far exceeded our ability to identify the genetic variants that cause inherited diseases. To address this shortcoming, the Bioinformatics and Human Genetics Group develop new computer-based approaches and laboratory-based methods to identify and characterise disease-causing genetic variants, with a current focus on inherited heart diseases and sudden cardiac death in young people.

We have discovered genetic variants in the non-coding DNA regions of genes that can impart a loss of function on the encoded proteins. Our research findings have increased the genetic testing diagnostic yield for inherited heart diseases, thereby allowing more families to receive the benefits of a precise genetic diagnosis.

We are working to further improve the genetic testing yield and to understand the genetic mechanisms that lead to heart failure. As a result, we are investigating potential new therapeutic approaches to slow or to prevent the development of inherited heart diseases using patient-specific cellular models of disease.