The Autism Genome Project is a collaboration of scientists in 60 academic research institutes spanning 12 countries. Their research project has been ongoing for three years now. About 2300 people have been studied, half with autism and half without. The group’s most recent findings were published in an article in the journal Nature this week.
The big news: people with autism have about 20% more areas of DNA that are either lost or duplicated (called “copy number variants” or CNV’s) compared to unaffected people. About 10-20 genes can be affected. Some of these genetic abnormalities may make someone susceptible to both autism spectrum disorders and intellectual disabilities.
So what does this mean, exactly?
Well, it shows that there are probably a variety of genetic defects that collectively lead to the same final common pathway of autism. It’s not just one genetic disorder – it’s several.
And, identifying specific genetic abnormalities has the potential to lead to targeted therapies. That’s pretty cool stuff.
I asked Alison Singer, President of the Autism Science Foundation for her thoughts about this new data. “This type of large genetic study is critical to helping us identify additional rare variants associated with autism. The genetics work fuels a pathway to discovery and treatment that makes scientific sense. We find the genes, we determine which proteins are affected by the deletion or duplication of those genes, and then we can intervene with targeted therapeutics, first in animal models and eventually in humans. We are already seeing progress using this pathway in Fragile X Syndrome, Rett Syndrome and with the Shank3 deletion. The better we understand the complex genetic underpinnings of autism, the more real help we’ll be able to provide to individuals with autism spectrum disorders.”
So what comes next?
Well, hopefully there will be a test in the future that identifies these genetic defects to make a specific diagnosis and to guide treatment.
Stay tuned! These are very exciting times in the field of autism research.
For more information on cutting edge autism research, see the Autism Science Foundation’s website at www.autismsciencefoundation.org.
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