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    Centenary Institute > Bioinformatics and Molecular Genetics Laboratory

Bioinformatics and Molecular Genetics Laboratory

Our ability to read DNA sequence has far exceeded our ability to identify genetic variants which cause inherited diseases. To address this shortcoming, the Bioinformatics and Molecular 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 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.

Dr Richard Bagnall

Head, Bioinformatics and Molecular Genetics Laboratory

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

Themes

  • Cardiovascular

    Cardiovascular

Head

  • Dr Richard Bagnall

    Head, Bioinformatics and Molecular Genetics Laboratory

    Phone number Phone Number 61 2 9565 6295

    Email Email r.bagnall@centenary.org.au

Programs

  • Agnes Ginges Centre for Molecular Cardiology

Research Fields

  • Genetic heart disease

Topics

  • Genetic diseases ,

Expertise

  • Genomics ,

Publications

Recent publications

Search amongst our repository

all publications

For access to all Publications via Pub Med.

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.

Dr Richard Bagnall

Head, Bioinformatics and Molecular Genetics Laboratory

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

News

  • International Day of Women and Girls in Science

    This International Day of Women and Girls in Science, we profile Emma Singer, a PhD student and Research Assistant in the Centenary Institute’s Bioinformatics and Molecular Genetics Laboratory.
    Date 10 Feb 2023
  • 2GB Healthy Living program interviews Dr Bagnall

    Dr Richard Bagnall, Head of the Centenary Institute’s Bioinformatics and Molecular Genetics Laboratory, has been interviewed on Radio 2GB’s Healthy Living program.
    Date 17 Nov 2022
  • Genetic testing helps detect children likely to have heart failure and require a transplant  

    Genetic testing can diagnose cardiomyopathy – a disease of the heart muscle – in children and help detect who will have heart failure and require a transplant, a new study has found.
    Date 13 Oct 2022
  • Centenary Institute receives $1.8m in funding for cardiovascular research

    World-leading research into cardiovascular disease has been boosted with three researchers from the Centenary Institute securing Cardiovascular Research Capacity Program grants from the NSW Government.
    Date 24 Nov 2021
  • Meet Professor Chris Semsarian

    Hi, I’m Chris and I’m Head of the Agnes Ginges Centre for Molecular Cardiology at Centenary.
    Date 04 Jan 2019
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