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Fragile X

Dr David Godler

David Godler knew from a young age he wanted to combine his love of biology with a desire to change lives.

 “I always admired scientists who made a difference,” the geneticist says. “When I was young I thought, ‘what is the best way to contribute?’

“I think improving people’s lives is a big thing, not just so that you are remembered, but so other people will live better lives.”

David, who fled with his family to Australia from the war-torn former Soviet Union in 1991, understands what it is like to want a chance at a better life. “Everyone wants to leave something behind,” he says.

David was 12 when his family left the USSR (his birthplace is now known as the Republic of Moldova). He remembers running into demonstrations on his way to school. “You had to run in the other direction very quickly,” he recalls. “If you were stopped and you couldn’t speak the native language fluently, you were in trouble.”

But his family, who had relatives in Australia, could not move as soon as they would have liked because of restrictions associated with his parent’s jobs. When the state collapsed, the family was allowed to leave. They took the first flight they could.

Through his research, David’s dream of helping others is coming true. He hopes to improve the lives of children and their families affected by genetic conditions including fragile X syndrome.

Fragile X, which affects one in 4,000 children born every year, is a common genetic cause of intellectual disability and autism. The inherited disorder is caused by a faulty switch of an important gene called FMR1, located on the X chromosome.

The syndrome is estimated to cost the Australian economy up to $180 million a year, or $2.5 million per child.

David and his team have already developed world-first genetic tools that may make possible the inclusion of fragile X as part of the newborn heel-prick test. This blood test screens babies for more than 30 congenital disorders.

The team is now investigating – in the world’s largest fragile X study – how often the syndrome occurs and how well the test works on 100,000 male and female newborns.

“Whilst it is known that large numbers of new families are diagnosed with fragile X syndrome each year, this diagnosis is often not made until children reach school age,” says David.

“By this time parents may have had another affected child. A delayed diagnosis and failure to recognise and manage fragile X syndrome also means that families may not receive the best early interventions.”

David and his team believe that some children with fragile X syndrome might be missed altogether because there is no routine testing for all children.

“This project will give us some idea of how many children or young people with fragile X syndrome remain undiagnosed and whether routine newborn screening would fill this gap,” says David.

“If the condition is detected early it would also give families more options for the future, including the choice to have children using preimplantation genetic diagnosis through IVF, who would be unaffected.”

David and his team will also collect information on the cost of raising a child with fragile X to show government that routine screening is cost effective.

The same technology underpinning the fragile X test is being used by David and his colleagues to develop newborn screening and diagnostic tests for three other genetic conditions - Prader Willi Syndrome, Angelman’s Syndrome and Chromosome 15 duplication syndrome.

“We are now developing different diagnostic and screening tests based on the technology initially developed for fragile X which will pick up all four conditions from one tiny portion of DNA,” says David.

Thousands of children and families touched by fragile X and these other disorders now stand to benefit from his research, bringing David a step closer to fulfilling his childhood dream.