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Wednesday 22 Nov 2017

The Year in Review from Autism Speaks’ Chief Science Officer

On January 5, 2012, Geri Dawson Autism Speaks Chief Science Officer published a “year in review”. Some key achievements this year include identifying environmental risk factors, gaining a greater understanding of possible biological markers, publishing multiple toolkits for families and professional, and beginning to focus research efforts on adults with autism. A very nice review of what’s been done a preview of what’s to come.

Dear friends,

When I was a college student starting to explore autism research, one of the first studies I read provided strong evidence that autism was mostly a genetic condition. That study, by Michael Rutter and Susan Folstein, looked at 21 pairs of twins, at least one of each pair being affected by autism. It compared identical twins, who share all of their genetic makeup, with fraternal twins, who share around half their genes. It found that when one identical twin had autism, so did the other 83 percent of the time. By contrast, this was true of only 10 percent of the fraternal twins. For the next three decades, it was taken as fact that the causes of autism were almost completely genetic.

That changed this past year with the largest ever autism twin study. Joachim Hallmayer and colleagues at Stanford University found a significantly lower autism concordance between identical twins—just 70 percent. They also found a much higher than expected overlap between fraternal twins—around 35 percent, considerably higher than the 15 percent or lower concordance we know exists between siblings who are not twins. This strongly suggests that environmental influences play a significant role in autism -prenatal influences being among the most likely.

These findings have profound implications, and they would not have been possible without your support for Autism Speaks and its Autism Genetic Resource Exchange (AGRE). AGRE is the world’s largest private genetic database for autism. AGRE staff, who were co-authors on the study, helped recruit the twins for this research, flew to their homes and spent days with each family conducting evaluations and collecting DNA and then provided this information to the researchers for analysis. Their findings are already catalyzing further research on environmental contributions to autism spectrum disorder (ASD), an area of research in which Autism Speaks continues its considerable investments.

Click here to read the rest of the article.

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