Molecular and genetic basis of heart disease

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Summary

The main focus of our research is the study of genetic heart disorders, which includes new gene discovery, genotype-phenotype correlation studies, and understanding the underlying pathogenic and signaling mechanisms.

Supervisor(s)

Professor Christopher Semsarian

Research Location

Camperdown - Centenary Institute

Program Type

Masters/PHD

Synopsis

The main research focus of the Centre is the study of genetic cardiovascular disorders. Molecular Cardiology is the integration of basic science research and clinical cardiology, with the major goal to reduce human disease.  We study diseases 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, microarray and proteomic approaches to understand disease pathogenesis, and initiation of preventative strategies to reduce sudden death in our community.

Additional Information

Specific Areas of Interest:

  • Molecular genetic basis of sudden cardiac death
  • Signalling mechanisms in cardiac hypertrophy
  • Transgenic mouse models of human cardiac disease
  • Cellular studies of myocyte function
  • DNA screening of human genes in a variety of cardiac diseases
Current Research Projects:

  • Post-mortem and genetic studies in sudden unexplained death in the young
  • Genetic studies in sudden death in type-1 diabetes
  • Proteomic analysis in cardiomyopathies
  • New gene discovery in familial cardiomyopathies and familial valvular disease syndromes
  • Establishment of a National Registry for Genetic Heart Diseases
  • Animal model studies in multiple mutation cardiac disease

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Keywords

Genetics, Heart disease, Sudden death, Cardiomyopathies, Genotype-phenotype correlation, Cardiac hypertrophy, Post-mortem analyses, Calcium, Animal models of human disease, Cardiac signalling

Opportunity ID

The opportunity ID for this research opportunity is: 137