How Big Data Are Unlocking the Mysteries of Autism

Scientific American has published an opinion piece by the principle investigator for a project called SPARK, launched five years ago '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 article calls autism 'a remarkably heterogeneous disorder that affects more than five million Americans and has no FDA-approved treatments,' arguing that the more people who participate in their research, '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...

But in order to get answers faster and be certain of these results, SPARK and our research partners need a huge sample size: 'bigger data.' To ensure an accurate inventory of all the major genetic contributors, and learn if and how different genetic variants contribute to autistic behaviors, we need not only the largest but also the most diverse group of participants. The genetic, medical and behavioral data SPARK collects from people with autism and their families is rich in detail and can be leveraged by many different investigators. Access to rich data sets draws talented scientists to the field of autism science to develop new methods of finding patterns in the data, better predicting associated behavioral and medical issues, and, perhaps, identifying more effective supports and treatments...

We know that big data, with each person representing their unique profile of someone impacted by autism, will lead to many of the answers we seek.

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