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Related Experiment Video

Updated: Jul 12, 2026

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder

Published on: September 6, 2024

Human Cellular Models of Autism and Related Conditions.

Sudha R Guttikonda¹, Christopher D Makinson²

¹Department of Psychiatry, New York State Psychiatric Institute, Columbia University, New York, NY, 10032, USA.

Biological Psychiatry

|July 10, 2026

Summary

Human cellular models, including induced pluripotent stem cells (iPSCs), are advancing autism spectrum disorder (ASD) research. These models reveal core molecular and cellular defects, aiding the development of potential therapies for ASD.

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Last Updated: Jul 12, 2026

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Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)

Published on: March 2, 2018

Area of Science:

Neuroscience
Developmental Biology
Genetics

Background:

Autism spectrum disorder (ASD) involves complex genetic and molecular mechanisms.
Human cellular models offer in vitro platforms to study ASD pathophysiology.

Purpose of the Study:

To review how human cellular models have advanced basic and translational research in ASD.
To identify key cellular and molecular convergent phenotypes in ASD.

Main Methods:

Utilizing human embryonic stem cells (hESCs) and induced pluripotent stem cells (hiPSCs).
Employing multiplexed approaches to study multiple ASD risk genes.
Analyzing cellular and molecular phenotypes in vitro.

Main Results:

Identified dysregulated neurogenesis, altered cell type specification, and disrupted synaptic activity in ASD models.
Revealed common molecular principles like chromatin, WNT, and mTOR signaling dysregulation.
Demonstrated the utility of hiPSC models for evaluating therapeutic compounds, including mTOR inhibitors.

Conclusions:

Human cellular models are crucial for understanding early ASD developmental pathophysiology.
These models facilitate correlation between in vitro phenotypes and patient clinical features.
Convergent cellular and molecular mechanisms are emerging as key targets for ASD research and therapy.