4 Aug 2015, 1 p.m.
The answer to the question of why so many babies are born with heart defects lies in research into the unknown and fearless funders.
Sydney embryologist Professor Sally Dunwoodie works at the frontier of genetic coding to decipher which of our 20,000 genomes are activated to help a baby's heart develop in utero. Pic supplied
ITS a curious concept, striving to fail," Sydney embryologist Professor Sally Dunwoodiesays. "It doesn't come comfortably to most people."
It's not clear that it comes easily to Dunwoodie, either, but it's a regular part of her job,working at the frontier of genetic coding to decipher which of our 20,000 genomes areactivated to help a baby's heart develop in utero.
When I ask how important failure is to her work, she laughs, and tells me about the currentresearch project into birth defects that she's running as head of embryology at the VictorChang Institute.
When the human genome was first sequenced, it took a decade and $3 million, now it can be sequenced in a week for $1600... - Professor Sally Dunwoodie
It's the biggest in Australia by a long stretch, and one of the biggest in respect of overseasresearch. Through it she hopes to find which genetic mutations trigger congenital heartdisease.
"Are we setting up to fail?" she says.
"We don't know how successful this will be. We havepredictions, that we might be able to solve 30 per cent or 40 per cent of cases, but it's in thefailure of the other 60 or 70 per cent that we will learn more, so we can know what we needto do next time."
But what constitutes failure, on a larger scale, she wonders. "Is it a total failure, even if wesolve a small percentage of cases? Or is that right, from a cost-benefit perspective? Could orshould money be spent differently?"
Part of the difficulty scientists face, in embracing what American professors of managementlike Sim Sitkin refer to as "intelligent failure", is the hurdle it places on projects, at the leadingedge of science, being granted funding.
"There is a chronic lack of funding in this country, only 10 per cent of grant applications getfunding, down from 25 per cent last year, even though they [the funding bodies] say 70 percent of applications are worthy," Dunwoodie says.
"So everyone is safe.They like you to find safe things, to have done the work basicallybefore you've got the money. That research is important, but then there is another type ofresearch which is big, interdisciplinary, it's a bit unknown, you don't really know what you'llend up with and there's a fear of failure."
And that's where Dunwoodie's interests lie.
In Australia, about eight babies are born each day with a congenital heart defect. In theUnited States, it's 40,000 a year. Worldwide, that figure is about 1 million. For the seriouscases, they need open heart surgery within 48 hours, cutting into hearts the size of a walnut.Some children require three open heart surgeries before kindergarten.
Heart defects account for 30 per cent of all birth defects, but scientists still don't know whythey happen, or who might be at risk, genetically.Until recently, money and technology has held research back.
But Dunwoodie says that haschanged, and researchers can more easily sequence all of a person's 20,000 genes in onehit, even sequencing entire genomes, which includes the genes and the DNA materialbetween them.
"When the human genome was first sequenced, it took a decade and $3 million, now it canbe sequenced in a week for $1600 ... Cheap technology means we can think bigger thanwe've ever had the possibility to do."
In 2003, at Sydney's Westmead Children's hospital, cardiac surgeon David Winlaw hit on theidea of starting a DNA bank, collecting samples from his patients and their families in thehope that one day it would be useful.
"We're talking about sifting through 3 billion pieces of information per person," Dunwoodiesays of her decision to sequence the 2000 samples in the DNA bank, and more that her ownteam of researchers have collected.
"It's just absolutely phenomenal. That kind of project though, the government fundingagencies are not going to fund. It's a fishing expedition, you don't know what you're going tofind, you need a lot of money and it's risky. But how are you ever going to get anywhereunless you push the boundaries?"
The money problem has been solved, at least in part, by donations over the past three yearsfrom Chain Reaction, a group of lycra-clad senior executives who ride 1000 kilometres eachyear raising money for children's charities.
"I get anxious about the size of the project, what people might expect ... In the businessworld, people might expect things to happen quickly, or for an 80 per cent success rate,"Dunwoodie says.
"This is a long slow business."
The Australian Financial Review/Westpac 100 Women of Influence Awards promote bold and diverse women championing change in business and society. Enter yourself orsomeone you know in one or more of the 10 categories: local/regional, board/management,innovation, culture, public policy, business enterprise, diversity, young leader, global, socialenterprise/notforprofit. Entries close August 9. For more information go to 100 Women of influence.
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One hundred women of influence: Sally Dunwoodie - Western Advocate