Genetic Research About Autism

By Michele C. Hollow @michelechollow
September 21, 2016
31 Jan 2015 --- Little boy listening to music with headphones --- Image by © Rainer Holz/Westend61/Corbis

Opting for targeted treatments instead of a one-size-fits-all approach brings hope to people on the spectrum and their families. Here's what you should know about genetic research for autism.

Despite the fact that 1 out of every 68 children in the U.S. has some form of autism and it’s one of the fastest-growing developmental disorders in America, hope is on the horizon. That’s due to a collaborative effort brought about by parents of autistic children, physicians, and scientists.

They all understand that people with autism spectrum disorder have a broad range of symptoms, and that the diversity varies so much that it makes more sense to take a personalized approach to diagnosing, treating, and curing the disease. Another reason for genetic research about autism is that studies of identical twins have shown that if one twin has the condition, there’s an up to 95 percent chance the other twin will, too.


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Autism Speaks, a leading autism science and advocacy organization, launched MSSNG (pronounced missing), the world’s largest database of sequenced genomic information on people with autism and their family members. They partnered with Google to store the sequenced data from MSSNG on the Google Cloud Platform.

Operations for MSSNG started early last year. To date, 5,208 whole genomic sequences have been collected. The goal is to complete 10,000 by the year’s end. The research is accessed and shared by scientists from 40 different medical institutions in nine countries so everyone can benefit.

By the end of this year, families participating in MSSNG will have access to their own data, which will be available to them via a web-based portal.

“MSSNG enables us to begin subdividing the catch-all term of ‘autism spectrum disorder’ into much more precise subtypes based on genome sequencing, behavioral characteristics, and other associated medical symptoms,” said Mathew Pletcher, vice president of Genomic Discovery and interim chief science officer at Autism Speaks.

That’s essential because under the umbrella of autism spectrum disorder lies many different tiers of the disability. People on the spectrum range in abilities from low to high functioning. The one-size-fits-all approach to a cure doesn’t work. “We hear from parents that what works for one family doesn’t necessarily work for another,” Pletcher said.

To find a cure, Pletcher and the many scientists working on treatments believe answers lie in an individual’s DNA. “The future is in personalized medicine,” Pletcher said.


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He expects MSSNG to engage, enable, and expand scientific research on autism. “The database will allow us to go beyond current autism research,” Pletcher said. “MSSNG draws from the larger scientific community to bring new expertise to autism research.”

“By having families who participated in the research have access to their own genomes will help them better understand their own diagnosis,” he said. “Each person’s underlying genetic cause will determine the type of therapy that may make a difference in their treatment.”

Pletcher looks to families as a key element in solving the autism puzzle. “We start with biological samples, which drives this work,” Pletcher said. “Parents of children with autism are great advocates. We learn a lot by listening to them about what works and what doesn’t work when treating this disorder. Autism spectrum disorder symptoms vary from child-to-child. That’s why we know an individualized approach works best. Even President Obama launched a Precision Medicine Initiative in this year’s budget.”

The Precision Medicine Initiative pioneers a new model of patient-powered research that promises to accelerate biomedical discoveries and provide clinicians with new tools, knowledge, and therapies to select which treatments will work best for which patients.

“I personally envision a time, in the not too distant future, when everyone’s genomic sequence will be part of their medical records,” Pletcher said.

By the year’s end the people who participated in the study should have access to their own genomic data, which they can share with their physicians. “Data like this will drive the next generation of healthcare and medical care,” Pletcher said. “We have the potential to redefine every level of autism, from how we diagnosis it to how we treat it. It’s happening on an individual level.”

Benefits of the first 100 genomes were published in the American Journal of Human Genetics. These findings have advanced understanding of autism and, in some cases, provided information useful in guiding diagnosis and treatment.


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March 31, 2020

Reviewed By:  

Christopher Nystuen, MD, MBA