09:42pm Wednesday 08 July 2020


 Shared between four organisations, Professor Sally Dunwoodie from the Victor Chang Institute will use her portion of the funds to help  diagnose babies born with heart problems.

Congenital Heart disease is the most common cause of birth defect in Australia. 42 babies are born with a heart defect per week. But despite how common it is, doctors have absolutely no idea why 80% of cases occur. Not enough research has been done into what causes heart defects and  consequently, most parents are given zero explanation as to why their baby was born with a heart problem.


Until now.

For the very first time Sydney scientists will be able to examine a baby’s entire genetic make-up. This has never been possible before. Every baby is born with around 20,000 genes. But previously researchers have only been able to analyse 2% of the genome. Now, thanks to an incredible advance in technology, scientists will be able to screen 100% of the genome – that is every single gene and every single strand of DNA in a human!

Owned by the Kinghorn Cancer Centre and the Garvan Institute, the ‘Gene Machine’ (AKA the HiSeq X Ten machine) is one of just a handful in the world. It is lightning fast and can analyse up to 18,000 patients a year, that’s 350 per week! Comparatively, the first time scientists analysed a patient’s entire genetic make-up it took 12 years!

Gene machine

The impact of the ‘Gene Machine’ will be enormous. Soon, there’ll be no more questions surrounding the genetic diagnosis of babies born with congenital heart disease.

This means new treatments can potentially be developed, as well as far more answers for the parents of a sick baby. Not only that, scientists will also be able to tell families the likelihood of having a second baby with a heart problem.

For more information about the ‘Gene Machine’ click here:  http://www.garvan.org.au/research/clinical-genomics/hiseqXTen

For more information about the government grant click here: https://www.nsw.gov.au/news/nsw-leads-genomic-medicine


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