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Saturday, May 1, 2021

SPARK, Genetics, and Autism

In The Politics of Autism, I discuss various ideas about what causes the conditionMany posts have discussed the potential correlatesrisk factors, and possible causes that have been the subject of serious studies.  Genetics tops the list.

Wendy Chung at Scientific American:
Five years ago we launched SPARK ( Simons Foundation Powering Autism Research for Knowledge) to harness the power of big data by engaging hundreds of thousands of individuals with autism and their family members to participate in research. The more people who participate, the deeper and richer these data sets become, catalyzing research that is expanding our knowledge of both biology and behavior to develop more precise approaches to medical and behavioral issues.

SPARK is the world’s largest autism research study to date with over 250,000 participants, more than 100,000 of whom have provided DNA samples through the simple act of spitting in a tube. We have generated genomic data that have been de-identified and made available to qualified researchers. SPARK has itself been able to analyze 19,000 genes to find possible connections to autism; worked with 31 of the nation’s leading medical schools and autism research centers; and helped thousands of participating families enroll in nearly 100 additional autism research studies.

Genetic research has taught us that what we commonly call autism is actually a spectrum of hundreds of conditions that vary widely among adults and children. Across this spectrum, individuals share core symptoms and challenges with social interaction, restricted interests and/or repetitive behaviors.

We now know that genes play a central role in the causes of these “autisms,” which are the result of genetic changes in combination with other causes including prenatal factors. To date, research employing data science and machine learning has identified approximately 150 genes related to autism, but suggests there may be as many as 500 or more. Finding additional genes and commonalities among individuals who share similar genetic differences is crucial to advancing autism research and developing improved supports and treatments. Essentially, we will take a page from the playbook that oncologists use to treat certain types of cancer based upon their genetic signatures and apply targeted therapeutic strategies to help people with autism.