Patient-Derived Brain Organoids Provide New Insights Into Autism Spectrum Disorders

Study in a Sentence: Researchers developed brain organoids from patient samples to model genetic subtypes of autism spectrum disorders (ASD), creating a translational platform that better reflects the human-specific features of the disorders than animal experiments and provides key insights into underlying neuronal activity.

Healthy for Humans: Approximately 75 million people worldwide live with ASD, a group of neurodevelopmental conditions that affect communication, behavior, and social interactions with genetic, biological, and environmental causes. Despite advances in our understanding of the genetic contributions to ASD, how genetic variation impacts human brain activity remains elusive.

Redefining Research: Brain organoids derived from patient cells model key features of early brain development and retain patient-specific genetic information better than animal experiments, making them a cutting-edge tool to study ASD. While brain organoids can be derived from blood, skin, or hair, collection of these samples is more invasive, leading researchers to use an innovative technique deriving cells from urine samples of patients with different ASD subtypes and neurotypical individuals and engineering them into organoids composed of neurons and other brain cell types. These organoids showed distinct patterns of neuronal firing and connections, helping explain why autism varies between individuals and offering potential new ways to improve diagnosis and develop targeted treatments.