Genetic link revealed in cleft palates in major breakthrough by Adelaide couple

AN Adelaide husband-and-wife team are behind a breakthrough in researching cleft palates, which may one day lead to simple dietary changes to prevent the defect.

AN Adelaide husband-and-wife medical team based in the US are behind a breakthrough find of a genetic link to cleft palates, which may lead to simple dietary changes to prevent the birth defect.

Their research team’s work suggests a genetic trigger for the malformations in about 70 per cent of cases. The condition affects one in 800 children, and 250 Australians are born with the defect each year.

Professors Timothy and Liza Cox, who work at the Seattle Children’s Research Institute, are both Adelaide University graduates who have had distinguished careers, including co-authoring numerous research papers.

An international research project lead by Prof Timothy Cox, along with Dr Tony Roscioli from NeuRA and the Sydney Children’s Hospital, has discovered four genes linked to cleft lips and palates (CLP).

Prof Timothy Cox said the condition was one of the most common birth defects.

“More than two thirds of the people I speak to either know someone who was born with a cleft or knows of someone — a friend of a friend, or a celebrity,” he said. “Yet few people know of the impact of a cleft on the child and the family — multiple facial surgeries, financial and emotional burden, social integration.

“While small breakthroughs are always being made, we feel this is one of the biggest advances in the understanding of the causes of cleft lip/palate over the last 15 years.

“Breakthroughs of this size have the potential to lead to real benefits for families including improvements in early diagnosis, better counselling and in the future the possibility of interventional therapies to prevent the disorder or reduce the number of surgeries the children must undergo.”

Prof Cox believed it would eventually be possible to predict an individual’s risk of developing a cleft, and “hopefully provide simply dietary modifications to prevent or reduce the severity of the disorder”.

The research examined families in which multiple members were affected with CLP, and also families with few cases of CLP, to find the evidence that most clefts have a single gene basis. The remaining 30 per cent of cases are due to unrelated syndromes.

The result may help with prevention in families with the gene. It will also reassure some families who have a child with CLP they have a very low risk of having another affected child, in cases where it was more likely due to a spontaneous development than a genetic cause.

Prof Cox, a former Pulteney Grammar student, is now a professor at the University of Washington’s School of Medicine, and inaugural holder of the Laurel Endowed Chair in Pediatric Craniofacial Research.

He has held several leading positions in craniofacial medicine in Australia, including director of genetic programs at the Australian Craniofacial Unit. He is a past president of the Australia and New Zealand Society for Cell and Developmental Biology.

The research was partly funded by the Australian National Health and Medical Research Council.

What is a cleft palate and lip?

A CLEFT palate is a congenital split in the roof (palate) of the mouth.

IT OCCURS when there is a failure of the “palatal shelves” to come fully together from either side of the mouth and fuse during the first months of embryonic development.

IT CAN occur alone or in association with cleft lip, where the lip has an opening that may extend into the nose.

CLEFT lips and palates can be corrected with a series of surgeries to normal function and more normal appearance with minimal scarring.