Genetic heart disease
Over 25,000 Australians die every year from sudden cardiac death (SCD). The most frequent cause of SCD is an underlying inherited heart disease for those aged 35 years and under.
Inherited or genetic heart diseases are a collection of heart muscle diseases and electrical rhythm disorders. Hypertrophic cardiomyopathy (HCM) is the most common disease, affecting up to 1 in 500 people.
While major advances have been made in our understanding of the clinical and genetic basis of inherited heart diseases. Genetic testing fails to identify a cause of disease for many families and there are currently limited therapeutic options available.
At Centenary 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 and population-based psychosocial and public health studies.
Our major goal is to reduce human disease by combining basic science research and clinical cardiology.
We have developed cohorts and national registries of patients and families with inherited heart diseases. We then utilise the latest in genetic technology in order to form the basis of our novel gene discovery studies.
Our research encompasses basic DNA and stem cell science, clinical research in patients, and public health initiatives. Most importantly, we have the key clinical resources, including studies of individual patients and families, which form the basis of all our genetic studies.
Professor Chris Semsarian AM, Head of Agnes Ginges Centre of Molecular Cardiology leads this research.
Our ability to read DNA sequence has far exceeded our ability to recognise which genetic variants cause inherited diseases. To address this shortcoming, we develop new computer-based approaches and laboratory-based assays to find disease-causing genetic variants.
Our research focus is to increase the diagnostic yield of genetic testing and to develop new therapeutics for inherited heart diseases. This is achieved by developing improved diagnostic genetic tests and by exploring the therapeutic potential of small molecules in cultures of heart cells that we grow from our patient’s blood.
Our work translates to more families receiving a genetic diagnosis, which improves clinical management. Working to develop novel therapeutic molecules using stem cell technology brings together highly innovative technologies at the cutting edge of human genetics research.
Dr Richard Bagnall, Head of Bioinformatics and Human Genetics Laboratory leads this research.
Our major goal is to reduce human disease by combining basic science research and clinical cardiology.
We have developed cohorts and national registries of patients and families with inherited heart diseases. We then utilise the latest in genetic technology in order to form the basis of our novel gene discovery studies.
Our research encompasses basic DNA and stem cell science, clinical research in patients, and public health initiatives. Most importantly, we have the key clinical resources, including studies of individual patients and families, which form the basis of all our genetic studies.
Professor Chris Semsarian AM, Head of Agnes Ginges Centre of Molecular Cardiology leads this research.
Our ability to read DNA sequence has far exceeded our ability to recognise which genetic variants cause inherited diseases. To address this shortcoming, we develop new computer-based approaches and laboratory-based assays to find disease-causing genetic variants.
Our research focus is to increase the diagnostic yield of genetic testing and to develop new therapeutics for inherited heart diseases. This is achieved by developing improved diagnostic genetic tests and by exploring the therapeutic potential of small molecules in cultures of heart cells that we grow from our patient’s blood.
Our work translates to more families receiving a genetic diagnosis, which improves clinical management. Working to develop novel therapeutic molecules using stem cell technology brings together highly innovative technologies at the cutting edge of human genetics research.
Dr Richard Bagnall, Head of Bioinformatics and Human Genetics Laboratory leads this research.