Families take part in world-leading genetics research at Williams Syndrome Australia Conference

Date
18 September 2014

Share

For the first time in seven years, over 50 Williams syndrome (WS) families from across Australia will come together to explore this rare condition at a national conference hosted by Macquarie University this week.

During the Williams Syndrome Australia Conference, the families will be able to seek advice from experts, including international guest speakers, and hear about the latest research findings, gain other family’s perspectives and most importantly eliminate the isolation associated with this rare genetic condition through social interaction. Families will also participate in research during the conference.

“Williams syndrome can be characterised by many striking features,” says Dr Melanie Porter. “Among other things, the phenotype includes distinctive facial features, highly sociable personalities and an affinity for music. We’re sure to have a lot of fun at this conference, with bongo drums, a saxophonist and plenty of time for dancing!”

The Williams Syndrome Conference is a unique opportunity to co-ordinate international research on the syndrome, using state-of-the-art imaging equipment in the Australian Hearing Hub, which is not easily transportable or always available for use.

Dr Porter and her team will be working with all ages – from preschool children to adults – to investigate key areas of functioning in Williams syndrome.

This includes new research into:

  • Hormonal and neurological underpinnings of sociability, trustworthiness and anxiety in WS, through saliva samples and fMRI brain imaging

  • A magneto encephalography (MEG) brain imaging study exploring hearing and auditory processing in WS

  • Cognitive, motor, social and pre-academic development in preschool children with WS

  • Loneliness, social satisfaction and friendships in WS

  • Eye tracking to see how WS individuals scan social information


The team will also continue ongoing research into genetic abnormalities, neurological examination and 3D face imaging, cognitive and academic abilities in WS children and adults.

“I was so proud when Williams Syndrome Australia awarded me research funds,” says Dr Porter, “because knowing that the families think, yes, this work is worthwhile, means my dream is starting to come true – the dream of having research outcomes that are meaningful to families and translate into real world outcomes.” Dr Porter would also like to acknowledge the benefactor whose donation made this research funding possible.

The conference is kindly sponsored by the Psychology Department of Macquarie University, the Association of Genetic Support of Australasia, Williams Syndrome Australia Limited and Tyrrell’s Wines.

Event details:
Williams Syndrome Australia Conference
Family conference: Fri 19 – Sun 21st September, C10A, Macquarie University
Research: Wed 17 – Wed 24th September, Macquarie Graduate School of Management

Interviewees: Dr Melanie Porter and team, Macquarie University, 02 9850 6768 and Dianne Petrie OAM, CEO, Association of Genetic Support of Australasia 02 9211 1462

Subscribe for Media Release updates

Media Contact
lucy.mowat@mq.edu.au

Share

Back To Top

Recommended Reading