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Translating genomics into improved care

University of Sydney

  • Cardiovascular Clinician Scientist Grant
Organ System:
  • Cardiovascular
Date Funded:
  • 31 May, 2019
Chief Investigator/s:
  • Professor Christopher Semsarian

Project summary

Improving care of inherited heart disease and sudden death families through identification of new disease genes using state-of-the-art genetic approaches.

What is the issue for NSW?

While there has been significant progress in defining the genetic causes of many of these inherited heart diseases, no cause is identified in over 50% of these inherited heart diseases.

Furthermore, in those where a genetic diagnosis has been made, how these genetic faults lead to heart disease, and what factors influence how the disease develops, remain unclear. Finally, how to translate these key genetic discoveries to improved diagnostic, therapeutic and prevention approaches in families with inherited heart diseases remains unclear.

What does the research aim to do and how?

This project will use novel and innovative approaches to answer key research questions related to the clinical and genetic basis of inherited heart diseases, such as muscle or electrical problems of the heart, and sudden cardiac death, particularly in the young.

The three-year research study will focus on the identification of new disease genes in families with inherited heart disease and sudden cardiac death using state-of-the-art genetic approaches which allows us to study thousands of genes at one time, so-called whole exome and genome sequencing. This cutting-edge technology will allow us to understand how these genetic discoveries lead to human inherited heart disease, and how to apply this new knowledge in the clinical setting to assess patients and their families.

The overarching purpose of this study is to be able to gain new genetic knowledge about inherited heart diseases and then translate these findings to improved diagnostic and therapeutic approaches, with the ultimate goal to improve the care of families with inherited heart diseases, including the prevention of sudden cardiac death in the young.

A key aspect of this study is to translate these findings immediately into practice, with the improved diagnosis and management of patients and their families with inherited heart diseases. The findings will lead to the development, for the first time, of evidence-based best practice guidelines for the investigation of inherited heart disease families and sudden cardiac death in the young. The findings will be disseminated to patient, clinicians and to the wider public not only within NSW, but across Australia, and internationally, such that the care of these families is improved globally.