09:11am Friday 03 April 2020

Unraveling autism

Kim Sebenoler (center) and her daughter, Sarah, along with other family members, are helping psychiatrist John Constantino, MD, understand the roots of autism. Kim carries, but does not express, a rare genetic mutation that may play a role in her twin boys’ autism. (Photo: Robert Boston/Washington University School of Medicine)

Like many patients visiting a doctor’s office, Kim Sebenoler started out her appointment by heading to the nearest restroom to give a urine sample. But her visit to the lab of John Constantino, MD, director of the William Greenleaf Eliot Division of Child Psychiatry, was not a typical exam. The goal was not to measure proteins in her urine or check her overall wellness.

Instead, researchers took her urine cells to replicate human brain cell function in a Petri dish. The study is one of three major approaches School of Medicine researchers are using to unravel the physical and psychological underpinnings of autism. The unique, multifaceted effort — studying genes, brain activity patterns and behavior — is giving researchers and practitioners a better understanding of the disorder, which today affects one in every 100 Americans.

The cells are helping co-investigators Constantino and neuroscientist Azad Bonni, MD, PhD, explore how brain function changes in people with autism spectrum disorder (ASD). Both researchers are international leaders — Constantino in clinical autism studies and Bonni in advancing understanding of the underlying mechanisms of brain development.

Read more about the study in the School of Medicine’s Outlook Magazine.

Media Contact: Judy Martin

Washington University in St. Louis

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