unisa logo

14 December 2017

A world-first research collaboration between UniSA and the Australian Craniofacial Unit could provide a significant global breakthrough for people born with small jaws, sparing affected children surgery.

Hemifacial microsomia is a condition in which the lower half of one side of the face is underdeveloped and does not grow normally. It affects around 1 in 1200 children and is the second most common craniofacial disorder after cleft lip and palate.

Dr Quenten Schwarz and Dr Sophie Wiszniak from UniSA’s Centre for Cancer Biology will spend the next three years working alongside Adelaide craniofacial surgeon Professor Peter Anderson to explore the role that blood vessels play in the normal development of the jaw.

The trio – who have been awarded $573,848 in the latest round of Federal Government health funding – hope they can come up with new treatments as an alternative to surgery.

“Using mouse models, we plan to test the idea that a protein called IGF-1 which is usually secreted from blood vessels can promote jaw expansion in young infants,” Dr Schwarz says. “If so, we could potentially inject this protein into the jaw using a slow release specialised matrix or tube to facilitate its growth.”

Currently, babies born with the disorder have problems swallowing, breathing and eating and have to undergo multiple rounds of invasive surgery during their formative years to make the jaw longer. Some also have to get a tracheotomy just so they can breathe and feed.

“Medical issues aside, there are huge social and psychological barriers that people with this disorder have to deal with,” Dr Wiszniak says. “If we can find an alternative to surgery it would be an important breakthrough.”

Professor Anderson, Director of Research at the world-renowned Australian Craniofacial Unit based in Adelaide, says the research is “internationally significant”.

“No-one anywhere in the world is taking this approach and the impacts could be profound,” he says.

Dr Schwarz and Dr Wiszniak have also won a separate $553,848 grant to further their research into congenital heart malformations. 

The developmental biologists will look at the role that neural crest cells play in abnormal development of the heart, which affects about 1 per cent of all births.

“The way the heart forms in the embryo is incredibly complex,” Dr Schwarz says. “Given the complexity it is not unexpected that things can go wrong but if we can learn more about these cells and their role in the heart’s development, hopefully we can come up with new therapies.”

Dr Quenten Schwarz is a developmental neuroscientist heading the Neurovascular Research Laboratory at the Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia. His colleague Dr Sophie Wiszniak is an Adjunct Research Fellow at the CCB and the winner of the 2016 Mary Overton Early Career Fellowship.

Professor Peter Anderson is Director of Research at the Australian Craniofacial Unit based at the Women’s and Children’s Hospital. He has a long-standing history of collaborative research with UniSA and SAHMRI.

Media contact: Candy Gibson mobile 0434 605 142 email mailto:candy.gibson@unisa.edu.au

Other articles you may be interested in