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Molecular Cardiology

One of the great benefits of identifying potentially fatal genetic diseases in families is the opportunity it provides to help save lives for future generations. Heart disease affects one in six Australians and two out of every three families. However, many of the genetic causes of cardiovascular disease remain unknown.

Understanding the basic biology of heart muscle function and therefore defining novel ways to treat heart muscle disorders clearly has wider implications for a variety of cardiovascular disorders, including cardiomyopathies, heart rhythm disorders and coronary artery disease.

The potential therapeutic boundaries are limitless. Integration of molecular biology, genetic technologies and clinical medicine will ultimately reduce human heart diseases and prolong life. We hope through our research to realise these goals in the coming years.

Group Head: Professor Christopher Semsarian

Professor Chris Semsarian talks on TEN about his team’s important work aimed at identifying young people at risk of sudden death from heart disease.

  1. Read about the link we discovered in sudden unexpected deaths in epilepsy

Research focus

The Agnes Ginges Centre for Molecular Cardiology is focused on the translation of basic laboratory research to improvements in the diagnosis and treatment of patients with heart disease. While there are several lines of integrated research within the program, the unifying focus is the study of cardiovascular disorders which are caused by underlying genetic abnormalities. There are now over 40 cardiovascular diseases which have been identified to be directly caused by primary genetic abnormalities. Despite the escalation in our knowledge of the genetic causes of cardiac disease, little is known about the molecular steps which determine how an abnormalitiy/alteration in the DNA leads to the clinical disease we see in patients.

Furthermore, studies have shown marked variability in the degree of clinical expression of the abnormal gene. There are many examples of affected individuals within the one family, who are carrying the same gene (DNA) abnormality, having vastly different clinical features and outcomes. This suggests modifying factors, both environmental (e.g. exercise, diet) and secondary genetic influences, play an important role in modifying the clinical phenotype in genetic cardiac disorders.

The aims of the research program are to identify new gene abnormalities in patients with heart disease, to understand the molecular basis of how these gene abnormalities lead to disease and to investigate how these pathogenic mechanisms are influenced by modifying factors. These aims are being addressed in an integrated research program utilising three concurrent sets of studies; in isolated cells, in genetically-modified mice, and in humans with inherited cardiovascular disorders attending the Genetic Heart Disease Clinic at Royal Prince Alfred Hospital.

A number of diseases are being studied, ranging from structural heart disorders such as cardiomyopathies to primary arrhythmogenic diseases such as long QT syndrome. A specific area of study is in sudden cardiac death, particularly in the young. These studies include novel gene discovery, genetic diagnosis, understanding disease pathogenesis and initiation of preventative strategies to reduce sudden death in our community

An example of one of the key diseases which is a focus of the laboratory is hypertrophic cardiomyopathy (HCM) which is the most common structural cause of sudden death in the young, including competitive athletes. HCM is characterised by marked thickening of the heart muscle and occurs in approximately one in 500 people, making it the most common genetic heart disorder known. Our research program has seen and collected clinical information and DNA in over 400 HCM families to enable genetic studies to be performed. To complement the studies in humans, our laboratory has developed two unique transgenic models of HCM, as well as cell culture models to evaluate the cellular effects of specific gene mutations.

Patient information sheets

Our Molecular Cardiology program has developed a wide range of helpful Information Sheets on genetic heart conditions and issues facing families with a genetic heart condition. For the latest information, visit the Patients and Family page on the Australian Genetic Heart Disease Registry website.

  1. Hypertrophic Cardiomyopathy
  2. Sudden Cardiac Death
  3. Genes and Inheritance

If you would like more information or are interested in participating in our research program, please contact:

Laura Yeates
Cardiovascular Genetics Coordinator
Phone: 02 9565 6187
Email: l.yeates@centenary.org.au

The Australian Genetic Heart Disease Registry

This world-first Registry aims to enrol every family in Australia who has an inherited heart condition in an effort to learn more about these diseases in Australia.

The Registry is also an important source of trusted, reliable information for people with a genetic heart condition and their family.

For more information about the Australian Genetic Heart Disease Registry, please visit www.heartregistry.org.au

Publications

Following are some examples of papers Professor Semsarian and his group have published recently:

Professor Chris Semsarian and his team have made a significant contribution to the field of genetic heart disease with more than 100 peer-reviewed research papers in leading cardiovascular journals. The publications for the past two years include:

Ingles J, Yeates L, Hunt L, McGaughran, Scuffham, Atherton JJ, Semsarian C. Health status of cardiac genetic disease patients and their at-risk relatives, International Journal of Cardiology (2011), doi:10.1016/j.ijcard.2011.08.083

Ingles J, McGaughran J, Vohra J, Weintraub RG, Davis A, Atherton JJ, Semsarian C. Establishment of an Australian National Genetic Heart Disease Registry. Heart, Lung and Circulation. 2008; 17: 463-7.

Ingles J, Semsarian C. The National Genetic Heart Disease Registry. Cardiovascular Medicine in General Practice. 2011; 15:14.

Ingles J*, Zodgekar P*, Yeates L, Macciocca I, McGaughran J, Semsarian C, Fatkin D. Guidelines for genetic testing of inherited cardiac disorders. Heart, Lung and Circulation. *Co-first authors. Accepted for publication July 2011

For more publication information, please contact Professor Semsarian or search the available listings on PubMed.

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