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Genetic study advances understanding of autism as ‘whole-body’ disorder

Findings support ambitions to develop personalized, gene-guided treatments for autism and its associated medical issues
October 21, 2015

A new study of genes associated with autism reveals that many also predispose to one or more of the medical and mental issues that commonly accompany the disorder.

The findings, presented this week at Neuroscience 2015 in Chicago, advance understanding of autism as a “whole-body” disorder.

They also support the hope that genetic testing may become a standard method for personalizing diagnosis and therapy for autism and its associated conditions.

The 115 autism-linked genes in the analysis were part of a larger sample of 200 genes linked to a range of brain disorders including attention-deficit and hyperactivity disorder, bipolar disorder and schizophrenia.

Autism Speaks helped fund the research with a Meixner Fellowship in Translational Research for study co-author Jasmine Plummer. Study leader Pat Levitt, of Children’s Hospital Los Angeles, is also pursuing a major Autism Speaks-funded study into autism’s “gut-brain connection.”

Their analysis showed that nearly a quarter of the larger group of 200 genes were also associated with intellectual disability. Intellectual disability affects around a third of children and adults who have autism. It linked another 27 of the 200 genes to epilepsy. Studies suggest that epilepsy affects 15 to 30 percent of people who have autism. 

Looking at the 115 genes that predispose specifically to autism, the researchers found another nine associated with gastrointestinal (GI) disorders. They linked still other autism genes to increased risk for cancer, autoimmune disorders, heart disease and kidney problems.

“The findings support Autism Speaks commitment to treating autism as a whole-body condition,” comments neuroscientist Dan Smith, Autism Speaks’ vice president for innovative technologies. “Our hope for genetic analyses like this one is that they will reveal the causes of whole-body autism symptoms. Genomics is an important part of figuring that out, and it’s why many large genome projects are underway, including Autism Speaks whole genome sequencing MSSNG project.”

A collaboration between Google and Autism Speaks, MSSNG is creating the world’s largest genomic database on families affected by autism and making it freely available for global research.

Learn more about MSSNG here.

Autism Speaks Autism Treatment Network is delivering on the vision of providing whole-person care and support for children with autism and their families at 14 medical centers across the United States and Canada.

Learn more about the ATN and find the ATN center nearest you here.

Read more about Dr. Plummer’s Autism Speaks fellowship project here.

Read about Dr. Levitt’s Autism Speaks gut-brain research here.


See all our Neuroscience 2015 coverage here.