Genetics (congenital heart disease)

Genetics (congenital heart disease)

This page is a research page. For information on specimen collection, please view our Kids Heart BioBank clinical hub page on the Sydney Children's Hospitals Network website.

Kids Heart BioBank page

The primary aim of our Genetics research program is to answer the questions surrounding Congenital Heart Disease (CHD) by investigating its genetic causes. We are also interested in understanding how genetic information may affect immediate and long-term health outcomes for our patients.

The Kids Heart BioBank, a world-leading genetic repository comprising over 5000 patients with CHD and their families, supports and enables our genetics research. It also facilitates large national and international research collaborations to understand the genetic mechanisms underlying CHD and associated health outcomes. In 2019, Dr Gillian Blue established Australia’s first CHD genetics clinic, which facilitates genetic testing and care in patients with CHD and their families.

Dr Gillian Blue

Dr Gillian Blue

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Dr Blue is medical scientist and genetic counsellor with a research interest in the genetic mechanisms underlying CHD using genomic technologies.
Related Links

More team members

  • Desiree Hilton – Senior Research Assistant
  • Bridget O’Malley – Research Assistant
  • Dr Janine Smith – Clinical Geneticist 
Last updated Monday 19th February 2024