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Mizzou team pinpoints genetic targets for autism spectrum disorder in young children

The University of Missouri was awarded $1 million in two grants by the National Science Foundation (NSF) in 2014 to install a supercomputer enabling data-heavy research in both bioinformatics and engineering applications.
Credit: University of Missouri
Chi-Ren Shyu and his team created a new computational method that has connected several target genes to autism. (Photo: University of Missouri)

COLUMBIA, Mo. — A team of researchers at the University of Missouri have created a new method that has connected several target genes to autism, a move which could help doctors better determine the diagnosis of the disorder in young children.

The University of Missouri was awarded $1 million in two grants by the National Science Foundation (NSF) in 2014 to install a supercomputer enabling data-heavy research in both bioinformatics and engineering applications, the university's News Bureau reported last month.

“In this study, we started with more than 2,591 families who had only one child with autism and neither the parents nor the siblings had been diagnosed with autism,” said Chi-Ren Shyu, a professor in the Department of Electrical Engineering and Computer Science in the College of Engineering, to the MU News Bureau. "This created a genetically diverse group composed of an estimated 10 million genetic variants. We narrowed it down to the 30,000 most promising variants, then used preset algorithms and the big data capabilities of our high-performance computing equipment at MU to ‘mine’ those genetic variables.”

According to the study, the genetic samples mentioned by Professor Shyu were obtained from the Simons Foundation Autism Research Initiative (SPARK). Each of the samples were taken from children with diagnosed cases of autism, including their parents and siblings who were unaffected by the disorder.

In total, over 11,500 individuals were tested for the study using advanced computational techniques. Shyu and his team successfully identified 286 genes which were then collected into 12 subgroups which exhibited characteristics typically seen in children on the autism spectrum. Of these, the News Bureau reported, 193 potentially new genes previously not identified were discovered, as well.

Credit: University of Missouri
Recent discoveries could lead to screening tools for young children and could help doctors like Judith Miles determine correct interventions when diagnosing autism. (Photo: University of Missouri)

“Autism is heterogeneous, meaning that the genetic causes are varied and complex,” said Judith Miles, a professor in the MU Thompson Center for Autism and Neurodevelopmental Disorders, to the News Bureau. "The methods developed by Dr. Shyu and the results our team identified are giving geneticists a wealth of targets we’d not considered before—by narrowing down the genetic markers, we may be able to develop clinical programs and methods that can help diagnose and treat the disease. These results are a quantum leap forward in the study of the genetic causes of autism.”

The framework created by Shyu's team has been authorized for wider-scale research, and genetic samples plan to be collected through SPARK, the nation's largest autism study. SPARK is partnering with scientists who aim to collect DNA and information on genetic analysis from 50,000 individuals with autism. To learn more or participate in the study, visit them online, or contact Amanda Shocklee at (573) 884-6092 or email her at shockleea@missouri.edu.

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