Download: Fast, Fun, Awesome
study in australia
student information in australia
Australian University graduate information
professional networking for australian university students
employment links for australian university students
University quizzes for australian students

Discovery sheds new light on congenital birth defects

Australian scientists have made a landmark discovery that could help women minimise or even avoid the risk of having a baby born with congenital birth defects.

The scientists, from Sydney’s Victor Chang Cardiac Research Institute (VCCRI), show for the first time how ‘nature’ and ‘nurture’ interact to increase the severity and likelihood of developing birth defects, including abnormalities in the heart, kidneys, brain, limbs and cranio‐facial regions (cleft palate).

Their study – published in the international journal Cell – shows how hypoxia, or a period of low oxygen during pregnancy, combined with a genetic risk factor of having only one functioning copy of a gene, dramatically increases the chances of a baby being born with congenital scoliosis, a malformation of the spine that affects around 1 in 1000.

UNSW Professor Sally Dunwoodie, Head of the Embryology Laboratory at the VCCRI and senior author on the study, says the findings take us a step closer to understanding why some people in families develop diseases and others don’t, and importantly, simple strategies that mothers could adopt to help prevent such defects occurring.

“We’ve long suspected that it is genes or our environment that cause birth defects, but up until now, the majority of these have been largely unknown. This is the first time anyone in the world has shown that both ‘nature’ and ‘nurture’, in combination, are molecularly responsible for causing many birth defects.

“This research is hugely exciting and will help us to genetically diagnose a whole range of birth defects, and give advice to women on how and when to avoid certain activities when pregnant. We hope it will eventually lead to the development of therapeutics to stop these defects occurring in the first place.”

Hypoxia during pregnancy can be caused by a range of circumstances including poorly controlled sugar levels in diabetics, smoking, high altitude, prescription and recreational drug‐use, anaemia or a poorly functioning placenta.

Media contact: Anna Dear, VCCRI, M 0404 637 607

Leave a reply

Feature Research
Controlling fear by modifying DNA

For many people, fear of flying or of spiders skittering across the lounge room floor is more than just a [more]

Kidney disease gene controls cancer highway

University of Queensland researchers have discovered that a gene that causes kidney disease also controls growth of the lymphatic system, [more]

Queensland fraud is a billion dollar business

Queensland businesses could be losing over $12 billion per annum as a result of company fraud according to a recent study [more]

Inside the mind of a burglar

Burglars are opportunistic, generally choose their targets at random and know all the tricks householders try to use as deterrents, [more]

Flight experiment goes boldly forth to advance new technology

A hypersonic flight experiment at eight times the speed of sound, led by a University of Queensland PhD student, has [more]

Pre-drinking alcohol before hitting the nightclubs likely to lead to violence

The increasingly common practice of drinking at home before hitting the nightclubs is the major predictor of people experiencing harm [more]

Research reveals women are more interested in a man’s earning capacity than the size of his wallet

Despite ABBA’s insistence that women long for “money, money, money”, research has found that The Beatles were on the [more]

Challenges still face women seeking seniority in business

Research conducted by the UTS Centre for Corporate Governance underpinning the 2012 Australian Census of Women in Leadership reveals a decade [more]

Swiss Army Knife teeth secret to seal’s success

Biologists have shown how an advanced set of teeth give Antarctic leopard seals the biological tools to feast on prey [more]

Beautiful physics: Tying knots in light

New research published today seeks to push the discovery that light can be tied in knots to the next level. [more]