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New Research Identifies Over 100 Autism Genes

Over 100 genes connected with autism have been identified in a groundbreaking genetic study conducted by the Seaver Autism Center for Research and Treatment at New York City’s Mount Sinai Hospital. The new study is the largest genetic study of autism ever undertaken, according to a report by WebMD.com.


Joseph Buxbaum, the Seaver Center’s director, led the research team. While some of the 102 genes identified were connected with intellectual disabilities and developmental delays in addition to autism, others were unique to autism spectrum disorder (ASD), and appeared to be connected to the social challenges associated with autism.

While autism affects 1 in 59 children in the U.S., its precise causes remain unknown. Buxbaum believes that knowing the genes involved in autism will allow researchers to better understand those causes, and develop drug therapies that might help children with severe impairments. At the same time, Buxbaum acknowledged that autism severity varies widely, and that “many people wouldn't need any new, targeted drug therapies because they're doing fine.”

While many experts believe that autism results from a mixture of genetic and environmental factors, genes appear to play the more major role. A recent study of about 2 million people found that genes account for 80% of the risk of autism spectrum disorder.


Previous research had identified 65 genes associated with autism. Buxbaum said he and his team were able to uncover more due to their study’s larger sample size of over 35,000 people, including almost 12,000 with autism. Buxbaum explained that roughly 80% of people with autism would not have “high risk” autism genes, but would instead have very small changes among multiple genes. The risk genes are also active in “excitatory” and “inhibitory” nerve cells, suggesting that autism is not related to only one type of brain cell, but involves many different disruptions in brain cell function.

The results of the study were published online on Jan. 23 in the journal Cell. Buxbaum believes several hundred additional autism genes will eventually be found.

Source: https://www.webmd.com/brain/autism/news/20200123/largest-ever-study-ties-over-100-genes-to-autism

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