Genetic Targets for Autism Identified
Autism isn’t a disorder it’s a spectrum of closely related symptoms, making it particularly tough to understand and identify correctly. Understanding the genetic underpinnings of autism is no easy task, although we have seen tremendous progress in recent years. A team from the University of Missouri have created and applied a new computational method that has managed to connect several target genes to autism. This could help improve doctors’ ability to detect autism early in children, helping them achieve the best outcome
The work was a result of $1 million awarded to the university by the National Science Foundation to install a supercomputer. This has enabled data-intensive research and education in the fields of bioinformatics and data-driven engineering applications.
“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, director of the Informatics Institute and the Paul K. and Dianne Shumaker Endowed Professor in the Department of Electrical Engineering and Computer Science in the MU College of Engineering. “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 pre-set algorithms and the big data capabilities of our high-performance computing equipment at MU to ‘mine’ those genetic variables.”
Samples from more than 11,500 individuals were used in this study, representing children diagnosed with autism and their unaffected parents and siblings. The analysis identified 286 genes categorised into 12 subgroups exhibiting commonly seen characteristics of children on the spectrum. 193 of those have not previously been identified in autism studies.
“Autism is heterogeneous, meaning that the genetic causes are varied and complex,” said Judith Miles, professor emerita of child health-genetics in the MU Thompson Center for Autism and Neurodevelopmental Disorders. “This complexity makes it tough for geneticists to get at the root of what triggers the development of autism in more conventional ways. 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 is now ready to be used on a much larger scale. The samples in this particular study were donated by the Simons Foundation Autism Research Initiative, who are also responsible for the Simons Foundation Powering Autism Research for Knowledge (SPARK), the USA’s largest autism study. SPARK is partnering with scientists who hope to collect information and DNA for genetic analysis from 50,000 individuals with autism — and their families — to advance understanding of the causes of autism and hasten the discovery of supports and treatments.
Materials provided by University of Missouri. Note: Content may be edited for style and length.