1000 Genomes Project Samples Help Researchers Identify Autism-Causing Genetic Variant

06/2015

An article titled, “New Autism-causing Genetic Variant Identified,” published on the website ScienceDaily, underscores the usefulness of data obtained from samples collected for the 1000 Genomes Project on the study of autism.

In general, autism tends to affect more males than females, but when females do have autism their symptoms tend to be severe. The research team hypothesized that females with autism, particularly those with a close female relative who is also affected, must carry potent mutations for the disease. They compared the gene sequences of autistic members from 13 families with gene sequences of normal individuals from the 1000 Genomes Project and identified mutations in the CTNND2 gene in affected females.

This discovery provides a window into the underlying biology of autism and provides a new target for predictive genetic testing and therapy.

The complete article can be accessed by following the link below:

http://www.sciencedaily.com/releases/2015/03/150325151733.htm.


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