Professor Sally Dunwoodie press-conference - pregnancy & birth defects breakthrough

Baby Brain

A powerful pregnancy discovery and the mastermind behind it

1 May 2018

“Today is the celebration of a double breakthrough. Not only have we identified a new cause of miscarriage and birth defects, we have also discovered a potential prevention.” Professor Sally Dunwoodie smiles as the press conference is broadcast live around Australia and the rest of the world. It is the biggest moment in her impressive, exhausting career.

Her breakthrough research has just been published in the New England Journal of Medicine. It’s the world’s most prestigious medical journal and her success is the scientific equivalent of winning an Oscar. Her acceptance speech is brief, humble.

Sally Dunwoodie Portrait
“I never imagined this. In the past, whenever I was asked if my research would cure babies with birth defects, my answer was always, ‘No it can’t. Our focus is prevention’. And then I would say, ‘Perhaps, pie in the sky, maybe one day, we might be able to override a mutation with something as simple as a dietary supplement’. It was a fantasy of mine. But now here we are. I think that day has come.”

It took 12 years. Subconsciously spurred on by the memory of her father who passed away from heart failure when Sally was just a young girl. Consciously though, she was thinking of families other than her own.

“The more families I meet, the more important it becomes to find answers. A couple came to me once, eager to donate their DNA to my research. Their baby had a terrible heart defect and didn’t have a hope of surviving. I’m proud of what we have achieved but it’s these people who inspire me. They want to help others even though it’s too late to help themselves.”

4.9 million babies are born with a birth defect every year. This is why Sally works late into the night and on weekends. It’s also why Sally has never been able to help out at her kids’ school. She just cannot find the time.

In the lab, Sally holds a small jar up to the light. Inside is a tiny, engineered mouse embryo submerged in a clear solution. The embryo is mostly see-through but you can clearly make out its vertebrae, stained a bright aqua colour for easy analysis. To the trained eye, its kinked spinal column hasn’t formed correctly. It has a genetic defect that has helped Sally make one of the greatest breakthroughs in pregnancy research in decades.

Professor Dunwoodie and her team - Embryology Lab

The greatest pregnancy breakthrough in decades?

It’s a bold statement, but one that has been unapologetically defended by the Executive Director of the Victor Chang Institute, Professor Bob Graham. “Can you point to a more significant discovery in pregnancy research this century?” he asks simply.

Baby in intensive care

Currently when a baby is born with a defect, the cause is unknown 80% of the time. The doctors just shrug their shoulders.

“Imagine what that must be like for the parents!” Sally exclaims. “They’d have all these questions. They’d ask ‘why, how and what did we do wrong?’. The mother always blames herself.”

But this study is real progress. It found that a deficiency in a vital molecule, known as nicotinamide adenine dinucleotide (NAD), can prevent a baby’s organs from developing correctly as it grows in the womb. It can lead to recurrent miscarriage as well as spinal, kidney, heart and other congenital malformations. In other words, Sally’s research has identified a probable cause of these mysterious birth defects and recurrent miscarriage. And it gets better…

Could a simple vitamin prevent birth defects?

Using a preclinical mouse model, Sally and her team also discovered that you could boost NAD back to desirable levels by simply supplementing a mother’s diet with Vitamin B3 (niacin). This prevented birth defects in the offspring with 100 per cent success.

Back at the media launch, Sally tries to explain the significance of her discovery.

“What isn’t known is how many women might be deficient in NAD. The normal range of NAD in the human population is not known. We need more funding, more research and we need to do clinical trials. But there is enough evidence to conclude that Vitamin B3 could be the key and what was found in mice will be found in humans too.”

The news spreads like vegemite.

Professor Sally Dunwoodie press-conference - baby brain discovery

Driving our discoveries

Professor Dunwoodie is fortunate to receive generous support from Chain Reaction NSW, the Key Foundation, and the National Health and Medical Research Council. Her work would also not be possible without the ongoing collaboration with Professor David Winlaw, Paediatric Cardiac Surgeon at The Children’s Hospital at Westmead. Their commitment has enabled this research to continue over several years, ultimately leading to this important breakthrough. But now there is even more work to do.

Make a difference

By making a philanthropic investment towards combatting birth defects and recurrent miscarriages you will enable our researchers to:

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Julia Timms
Head, Media & Communications
0457 517 355

Acknowledgement of Country

The Victor Chang Cardiac Research Institute acknowledges Traditional Owners of Country throughout Australia and recognises the continuing connection to lands, waters and communities. We pay our respect to Aboriginal and Torres Strait Islander cultures; and to Elders past and present.

Victor Chang Cardiac Research Institute - The Home of Heart Research for 30 Years