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Sequence of success

How one team of scientists uses maths and computing to accelerate research discoveries

 Doctor Eleni Giannoulatou’s work underpins some of the greatest discoveries in cardiovascular research in the past decade in Australia. That’s because her Computational Genomics Laboratory at the Victor Chang Cardiac Research Institute continues to develop next-generation techniques to speed up the analysis of massive datasets – information taken from patient DNA - to identify mutations that cause different types of heart disease.

Despite the complexity of whole genome sequencing, Dr Giannoulatou explains it simply: “We develop computational methods and mathematical models to analyse large volumes of data from the DNA of patients more efficiently and quickly than we’ve ever been able to before.”

Indeed, without Dr Giannoulatou’s team, her colleague Professor Sally Dunwoodie might not yet have discovered the potential of vitamin B3 to treat a molecular deficiency causing miscarriages and complex birth defects.

This breakthrough is akin to the revolutionary finding last century that confirmed folic acid supplements could prevent the neural tube defect spina bifida in babies. As a result, consumption of folic acid has been adopted by expectant mothers worldwide, and the addition of folate to our food supply has led to a 70% decrease in the number of babies born with neural tube defects.

“To be part of such a discovery makes me feel really proud,” Dr Giannoulatou explains.

“We live in an era of unprecedented amounts of biological and genetic data. Using computational methods, we can now derive insight from these datasets to improve medical decision making.

 “The best part is analysing genetic data that hasn’t been seen before; looking to see if the data can explain our genetic questions, especially when you get a brand-new dataset.

The Power of Genetics

Dr Giannoulatou was 22 years old, with a Masters of Computer Engineering and Informatics, when she left Greece bound for the UK, where she earned her Master of Philosophy in Computational Biology at Cambridge University in 2005, and her Doctor of Philosophy in Bioinformatics at Oxford University in 2011.

She then came to Sydney to join the Victor Chang Cardiac Research Institute in 2013 as a member of the Bioinformatics and Systems Medicine Laboratory, and only two years later started an independent research group. 12 months later she became a member of Faculty at just 34 years of age.  

“There is a lot of support in this Institute as it recognises the importance of bioinformatics and bioinformatics research and the power of genetics in solving important clinical problems,” Dr Giannoulatou said.

 “We all carry numerous genetic variations, but finding the rare ones that cause disease is hard, unless you have enough data or statistical evidence.

“We simply have to develop more sophisticated methods to find mutations, and to look in the not-so-obvious places.”

Dr Giannoulatou and her team work collaboratively with many laboratories, including that of founding Executive Director Professor Bob Graham, which is trying to elucidate the genetic basis of spontaneous coronary artery dissection (SCAD): a disorder that affects and, unfortunately, not infrequently kills otherwise healthy young women in their 40s and 50s.

She also works with Deputy Director Professor Richard Harvey on hypoplastic left heart syndrome, a very severe type of congenital heart disease, and with Professor Dianne Fatkin on dilated cardiomyopathy—one of the most common forms of heart disease causing severe heart failure necessitating a heart transplant.

Precision Medicine

According to Dr Giannoulatou, considerable excitement surrounds the genomic revolution in healthcare, which promises treatments on the basis of a person’s unique DNA sequence: their genome, in a new era of so-called personalised or precision medicine.

So it’s no surprise that her team has this year more than doubled in size.

You wouldn’t need to spend longer than a coffee break with Dr Giannoulatou to know she’d be more than just a little embarrassed hearing herself described as an “extremely intelligent, young superstar” by her peers.

“I can’t speak highly enough of Eleni,” says Professor Graham. “She has a level of thinking and analysis that is rare, and is always open to new ideas and to looking at things in a new way.”

But while her quest at work is to find the genetic causes of cardiovascular diseases, at home she and physicist husband Matt are sometimes hard-pressed to just find their two-year-old son Georgios, whose favourite game is Hide and Seek.

They take Georgios to Greece once a year, and her family visits annually so that Yiayia and Pappou can enjoy their grandson’s play time too.  

Dr Giannoulatou said the Institute has provided her with, among many other things, outstanding role models.

 “I feel so fortunate to have all of these collaborations. I think they have all been very successful scientists – I wish I could become like them one day.

“I’d like to be internationally recognised for my work too, but it is the genetic questions and the love of finding the answers that motivates me.

 “I would encourage everyone to consider studying STEM subjects, not only because of the difference you can make in people’s lives, but also all the different places it can take you.”

And there is no doubt that this young scientist is most definitely going places.

 Learn more about Dr Eleni Giannoulatou's work

Driving Our Discoveries

Dr Eleni Giannoulatou is fortunate to receive generous support from the NSW Office for Health and Medical Research, the Heart Foundation and the National Health and Medical Research Council.

By making a philanthropic investment towards improving the diagnosis of genetic diseases using computational methods, you will enable her team to:

  • Develop new analytical approaches to improve our ability to detect genetic mutations that cause heart defects in babies
  • Use genetic information to predict the risk of developing dilated cardiomyopathy
  • Analyse large DNA datasets to identify genetic mutations that contribute to spontaneous coronary artery dissection (SCAD)