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Translating genomics for inherited heart disease

University of Sydney

  • Cardiovascular Senior Scientist Grant
Organ System:
  • Cardiovascular
Date Funded:
  • 31 May, 2019
Chief Investigator/s:
  • Dr. Richard Bagnall

Project summary

Translate new genetic testing approaches for inherited heart diseases with higher diagnostic yield.


What is the issue for NSW?

Inherited heart diseases are a collection of heart muscle diseases and abnormal heart rhythm disorders. They can affect people of any age and may lead to heart failure or even sudden death. The inherited heart diseases are caused by variants (faults) in DNA sequence.

If a person is diagnosed with an inherited heart disease they can undergo genetic testing to look for the disease-causing DNA variant. Finding the genetic cause of disease enables screening of immediate family members who may also have inherited the variant and are at risk of developing the disease. Family members who have inherited the variant can be clinically monitored more closely whereas those family members who have not inherited the variant are released from life-long clinical surveillance.

What does the research aim to do and how?

Genetic testing for the inherited heart diseases can be improved. Commercial genetic testing currently focuses on screening the protein coding regions of genes, which represents only 1% of our DNA. The purpose of this research project is to develop new and improved approaches to find disease-causing variants in non-coding DNA. This project will develop new methods to find disease causing variants in non-coding regions of our genome, and new assays to confirm that the variants are responsible for disease development.

The project will translate to new genetic testing approaches for the inherited heart diseases with higher diagnostic yield. This will result in earlier identification of at-risk family members, thereby allowing earlier initiation of clinical management with the potential to prevent sudden cardiac death. The new genetic testing approaches will be integrated into clinical practice by our multidisciplinary team, who are recognised internationally in the field of inherited heart disease and sudden cardiac death.

During the course of this research project we will provide free state-of-the-art genetic testing to a large NSW-based patient population, including people who would otherwise not be able to afford to pay for genetic testing. The ultimate beneficiaries of this research project will be NSW-based families with potentially lethal inherited heart disease.