Tag Archives: Telethon Kids Institute

birth defects

Birth defects: a data discovery

Professor Fiona Stanley is well known for her work in using biostatistics to research the causes and prevention of birth defects, including establishing the WA Maternal and Child Health Research Database in 1977.

In 1989 Professor Stanley and colleague Professor Carol Bower used another database, the WA birth defects register, to source subjects for a study of neural tube defects (NTDs). The neural tube is what forms the brain and spine in a baby. Development issues can lead to common but incurable birth defects  such as spina bifida where the backbone does not close over the spinal cord properly.

The researchers measured the folate intake of 308 mothers of children born with NTDs, other defects, and no defects. They discovered that mothers who take the vitamin folate during pregnancy are less likely to have babies with NTDs. Their data contributed to worldwide research that found folate can reduce the likelihood of NTDs by 70%.

After the discovery Professor Stanley established the Telethon Kids Institute where she continued to research this topic alongside Professor Bower. Together they worked on education campaigns to encourage pregnant women to take folate supplements.

Their great success came in 2009 when the Australian government implemented mandatory folic acid fortification of flour. The need for such legislation is now recognised by the World Health Organisation.

A 2016 review conducted by the Australian Institute of Health and Welfare found that since the flour fortification program’s introduction, levels of NTDs have dropped by 14.4%.

– Cherese Sonkkila

This article was first published by the Australian National Data Service on 12 September 2016. Read the original article here.

Read next: Big data, big business.  Whether it’s using pigeons to help monitor air quality in London or designing umbrellas that can predict if it will rain, information is becoming a must-have asset for innovative businesses.

autism diagnosis

Biobank speeds autism diagnosis

The Autism CRC is building Australia’s first Autism Biobank, with the aim of diagnosing autism earlier and more accurately using genetic markers. Identifying children at high risk of developing autism at 12 months of age was “a bit of a holy grail”, says Telethon Kids Institute’s head of autism research Professor Andrew Whitehouse, who will be leading the Biobank. Researchers think the period between 12–24 months of age is “a key moment” in brain development, he adds.

Autism Diagnosis
Professor Andrew Whitehouse, Head of the Developmental Disorders Research Group at the Telethon Kids Institute

As with other neurodevelopmental disorders, a diagnosis of autism is based on certain behaviours, but these only begin to manifest at a diagnosable level between the ages of two and five. Whitehouse says while there are great opportunities for therapy at these ages, researchers believe an earlier diagnosis will make the therapy programs more effective. Some 12-month-old children already exhibit behaviours associated with the risk of developing autism, for example not responding to their name, but currently doctors can’t conclusively diagnose autism at this early age.

“If we can start our therapies at 12 months, we firmly believe they’ll be more effective and we can help more kids reach their full potential,” says Whitehouse.

The biology of autism varies greatly between individuals, and it appears a combination of environmental factors and genes are involved – up to 100 genes may play a role in its development. Studying large groups of people is the only way to get a full understanding of autism and potentially identify genes of importance.

To do this, the Biobank collects DNA samples from 1200 families with a history of autism – children with autism aged 2–17 years old, who are recruited through therapy service providers, and their parents – as well as samples from control families who do not have a history of autism.

autism diagnosis
DNA samples are taken at the Telethon Kids Institute and sent to the ABB Wesley Medical Research Tissue Bank to be analysed for genetic biomarkers. Credit: Telethon Kids Institute

The samples are then shipped to the ABB Wesley Medical Research Tissue Bank in Brisbane for the Biobank’s creation. Here, they are analysed for genetic biomarkers using genome wide sequencing – determining DNA sequences at various points along the genome that are known to be important in human development. Whitehouse says they are also planning to conduct metabolomic and microbiomic analyses on urine and faeces.

“It’s the biggest research effort into autism ever conducted in Australia,” he says.

The goal is to use the results to develop a genetic test that can be conducted with 12-month-old children who are showing signs of autism. The samples will also be stored at the Biobank for future research.

The aim is to expand internationally, so that researchers can exchange data with teams around the globe who are doing similar work, thus increasing the sample size.

– Laura Boness

If your child has been diagnosed with autism and you would like to find out about participating in the Autism CRC Biobank, click here.

www.autismcrc.com.au