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This article was published 10/7/2013 (1504 days ago), so information in it may no longer be current.
CALL it the Angelina Jolie gene for FASD.
Scientists at the University of Manitoba have just won a $1.3-million grant to find the genetic markers for fetal alcohol spectrum disorder, a brain injury caused by women who drink while pregnant that can condemn a child to a life of behavioural and cognitive problems.
That could in turn produce the holy grail of FASD -- a simple, cheap blood or tissue test that can determine whether people, especially newborns, suffer from the disorder. Then, targeted programs could start right away, which could dramatically improve a child's chances of a happy, productive life.
"There is a lot of excitement around this," said lead researcher Jim Davie, an epigeneticist based out of the Manitoba Institute of Child Health. "I think the chances of us finding something are pretty high."
A genetic test would also begin to answer a troubling question that has long plagued FASD experts: How many people have the disorder? No reliable count exists, though experts believe it is more common than Down syndrome and autism combined.
Unlike the BRAC1 mutation, the one linked to breast cancer made famous recently by celebrity Angelina Jolie, the FASD research involves epigenetics, the study not of a mutation but of how outside factors, such as alcohol, affect how a gene works.
Davie said alcohol's effects are myriad. The trick is to pick a few of the best indicators and build a test around those.
The research involves about five different projects, including lab work on mice, frogs and even on a collection of autopsy brains of people who had FASD.
Currently, diagnosing FASD is a long process of cognitive and behavioural tests. It relies, to a large degree, on an admission by a mother that she drank while pregnant -- a tough thing to do. In Manitoba, only children can get a diagnosis, and most aren't sent for testing until they're already failing in school, acting out or even involved in crime. Adults are out of luck.
Once a diagnosis is made and the nature of the brain injury is understood, things such as school, job-training, life skills, speech and occupational therapy and counselling can be tailored to each child.
At some point, the U of M research team will need to see if the genetic test works in the general population. Community health researcher Brenda Elias has begun laying the groundwork for that. She is working with First Nations that are part of the Southeast Resource Development Council on research that looks beyond the genetics at how other factors such as nutrition, income and education affect how FASD manifests itself.
The participating First Nations haven't been chosen yet, but they could become the first communities to try out the new genetic test to ensure it is effective.
"On the horizon, we are going to be able to make a difference in people's lives," said Elias. "If we can find people with FASD early, we can intervene early."
Davie said it could take about a decade for any lab discoveries to end up in doctors' hands for everyday use. Once the science is settled, there are other policy hurdles such as the economics of such a test, how easy it is for clinicians to use, whether parents would agree to a test if it reveals the mother drank and ensuring the proper help is available to people whose tests come back positive.