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Marjorie Bekaert Thomas
Advances in health and medicine.
Autism Channel
Reported January 15, 2013

Genes to Diagnose Autism?


(Ivanhoe Newswire) – Diagnosing autism in children and adults is not a perfect science, explaining how some individuals go many years without ever being diagnosed correctly. A new study hopes to improve these diagnostics techniques with the discovery of gene variants that seem to be related to autism. 
For the study, researchers tested the DNA of 55 people from families in Utah who had more than one family member diagnosed with autism for copy number variations, which is when parts of DNA are missing or duplicated. 
Using the DNA of all 55 participants, 153 copy number variations, also called CNVs, were found to be linked to autism. 
Researchers then custom-designed a DNA array with probes for the 153 CNVs found previously and 185 CNVs also linked to autism to test the DNA of 3,000 autistic patients as well as 6,000 control participants. 
Out of the 153 CNVs, 15 showed to be associated with a two-times higher risk for autism. Out of the 185 CNVs previously linked to autism, 31 proved to be associated with the same increased risk. 
These newly discovered gene variants could be very important for diagnosing autism in the future.
"Many of these gene variants may serve as valuable predictive markers," researcher Hakon Hakonarson, M.D., Ph.D., a Director of the Center for Applied Genomics at The Children's Hospital of Philadelphia was quoted as saying. 
So people with autistic family members can verify whether or not others in the family may have the same disorder.  
The results of the study go even further to show that certain gene variations can be specifically linked to autism and not just a range of related disorders. 
“Our results are consistent with other studies suggesting that many different biological pathways, when disrupted, can lead to ASDs," Dr. Hakonarson was quoted as saying.
Source: PLOS ONE, January 2013


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