Scientists at the University of Iowa contributed to a study published in Nature Genetics that identified 60 autism spectrum-associated genes with exome-wide significance, including five new genes not previously implicated in neurodevelopmental disorders.
According to the press release, UI researchers contributed to the study in two main ways. First, they helped recruit thousands of participants and families to the SPARK (Simons Powering Autism Research) research cohort, which was created six years ago to advance understanding of the complex genetics of autism. SPARK is the largest autism research community and includes genetic data from nearly 100,000 people with autism.
Second, the team conducted analysis to interpret what the autism-associated genes are doing.
“We are essentially making a map of autism genetics that tells us what the major molecular mechanisms are,” Dr. Jake Michaelson explained in a statement. “It feels sort of like a Lewis and Clark-type expedition, where you know there’s this huge (unexplored) territory, but its contours and variety haven’t yet been well described.
“We’re really excited about this study because it sheds light on how genes are influencing the brain over a wider band of the autism spectrum,” he added.
The new study focused on rare genetic variations inherited by children with autism from a parent who does not have autism. Previous studies stopped short of identifying specific genes and mechanisms involved in autism, or only focused on a small part of the genetic picture that is associated with intellectual disability, according to the release.
Research for the study was led by scientists at Columbia University Medical Center that analyzed 19,843 participants with autism. They then added another 22,764 individuals with autism and 236,000 people without autism from the general population.
“We estimate that we will need three to four times as many participants as are currently in SPARK to continue to discover the inherited, moderate impact genes that underlie a majority of the autism spectrum,” said Dr. Michaelson.
Other members of the team contributing to this study included Leo Brueggeman, Taylor Thomas, Cate Buescher, Ethan Bahl, Lucas Casten, Sydney Kramer and Tanner Koomar.
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