New Autism Study

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New Autism Study

New Autism Study Much of autism research so far has focused on rare, de novo mutations, which appear spontaneously in individuals with autism. These mutations often have strong Intelligence+testeffects and so can be straightforward to find—for example, by comparing the genomes of the affected individuals with those of their unaffected family members.

By contrast, common variants are present in 5 percent or more of the population. Alone, each variant may have little effect on an individual, but taken together they can tip the scales toward a particular condition, such as autism.

Because of their prevalence, definitively linking a particular variant to a disorder requires tens of thousands of samples.

Rather than pinpoint individual variants, the new study looked at how much common variants contribute to autism risk overall. The results suggest that roughly 49 percent of the risk of developing autism can be attributed to common variants, versus 3 percent for rare, de novo variants.

De novo mutations are extraordinarily important, but we need to consider this other kind of inherited risk as a critical part of the [genetic] architecture,” says lead researcher Joseph Buxbaum, director of the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai in New York City.

New Autism Study


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