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Centenary Institute - Medical Research
Centenary Institute - Medical Research

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.

Inherited heart diseases are a collection of heart muscle diseases and electrical rhythm disorders. They often affect adolescents and young adults, have a marked variability in their clinical presentation, and can lead to sudden cardiac death. 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.

Our research focus is to improve genetic testing approaches and to develop new therapeutic options for inherited heart diseases. This is achieved by developing novel genetic testing approaches that investigate RNA sequence rather than DNA sequence, and by exploring the effects of novel therapeutic molecules in heart cell culture models that are derived from the blood of our patients.

Our work translates to improve genetic diagnosis amongst patients and their family members. Our work developing novel therapeutic molecules for non-coding DNA variants using stem cell technology brings together highly innovative technologies at the cutting edge of human genetics research.

Dr Richard Bagnall, Head of Laboratory

Phone: +61 2 9565 6295
Email: r.bagnall@centenary.org.au
Twitter: @rdbagnall  @CSHeartResearch

Dr Richard Bagnall is a research leader in the study of human genetic diseases. He defined the genetic causes of the blood clotting disorder, haemophilia A, at King’s College London, UK (PhD) before moving to Sydney. He joined the Molecular Cardiology Program as a Senior Research Officer and now heads the Bioinformatics and Molecular Genetics Group. His current research focus is on understanding how genetic variants cause inherited heart diseases and sudden cardiac death. This is achieved by developing new computational approaches to analyse genome sequencing data and new laboratory-based methods to identify and characterise genetic variants. His research outcomes have a direct translational impact on the patients and families who attend the Hypertrophic Cardiomyopathy and Genetic Heart Diseases Clinics at Royal Prince Alfred Hospital, Sydney. Richard has published his research findings in leading journals including the New England Journal of Medicine and Journal of the American College of Cardiology. He was the inaugural recipient of a Centenary Institute Future Leaders Fellowship (2018) and is funded by a NSW Health Cardiovascular Senior Scientist Grant (2019-2021).

Ms Emma Singer, Research Assistant, human genetics.

Ms Mira Holliday, Research Assistant, cellular models of disease.