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Reviewed By: Louise Chang,
SOURCES: 2007 Medical Reference from Medstar Television. Jonathan Haines, PhD, Dir. Human Genetics Research Ctr. Vanderbilt University Nashville, TN.
© 1999-2011 Medstar Television
It's a genetic treasure hunt…finding the biological roots of autism.
What we're trying to identify are the few, the very few of those several million simple changes that make the difference between someone who has autism and someone who doesn't have autism.
With access to thousands of DNA samples from families with two or more children with the condition, the autism genome project is making breakthroughs.
The findings on chromosome 11 are particularly promising. We feel like we've got a strong lead, so we are actively trying to weed through the genes in that region to find that proverbial needle in a haystack.
Another needle in that haystack is a gene called neurexin (neur EXX inn) one. It's within these areas that the loss or gain of genetic material alters the function of the gene.
The mutations that we see are not present in a large number of normal individuals, therefore there is significant evidence then, that they are likely to be, if not causal, then significant risk factors.
Ultimately, the result of this continuing project may be a predictive test.
We are hoping that at some point, and this will be a number of years into the future, that we will be able to take a blood sample perhaps, and predict whether somebody is, not if they're going to get autism or not get autism, but if they're likely to develop autism.
In the meantime, phase two is getting underway, inspired by the families:
There's so much urgency in the part of these families, especially those with multiple affected children, that uh, it really inspires us to really wanna push these studies forward as quickly as possible.
With the goal of cracking the code of autism. For WebMD, I'm Sandee LaMotte.
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