Bioinformatics and Molecular Genetics Laboratory
We have discovered that genetic variants in the non-coding DNA regions of genes 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. To achieve this, we are developing potential new therapeutic approaches to slow or to prevent the onset 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. We have developed a new genetic test that analyses RNA sequence rather than DNA sequence, and we are 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.
Australian
Florey Institute of Neuroscience Mental Health
Hunter Genetics Unit
Liverpool Hospital
Royal Children’s Hospital Melbourne
University of Melbourne
University of Sydney
Victor Chang Cardiac Research Institute
Walter and Eliza Hall Institute of Medical Research
International
Harvard Medical School, USA
Mayo Clinic, USA
University College London, UK
University of Copenhagen, Denmark
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. We have developed a new genetic test that analyses RNA sequence rather than DNA sequence, and we are 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.
Australian
Florey Institute of Neuroscience Mental Health
Hunter Genetics Unit
Liverpool Hospital
Royal Children’s Hospital Melbourne
University of Melbourne
University of Sydney
Victor Chang Cardiac Research Institute
Walter and Eliza Hall Institute of Medical Research
International
Harvard Medical School, USA
Mayo Clinic, USA
University College London, UK
University of Copenhagen, Denmark
