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Updated: Jun 14, 2025
Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
Published on: March 2, 2018
Single-cell technology grows up: Leveraging high-resolution omics approaches to understand neurodevelopmental
Joseph D Dougherty1, Simona Sarafinovska1, Sneha M Chaturvedi1
1Department of Genetics, Washington University School of Medicine, Saint Louis, MO, USA; Department of Psychiatry, Washington University School of Medicine, Saint Louis, MO, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, Saint Louis, MO, USA.
New genomic technologies offer unprecedented cellular resolution for understanding neurodevelopmental disorders (NDDs). By analyzing mutant models and human tissue, researchers can define NDD causes and identify commonalities across conditions.
Area of Science:
- Neuroscience
- Genomics
- Developmental Biology
Background:
- Hundreds of neurodevelopmental disorder (NDD) genes identified, leading to genetic models for studying mutation consequences.
- Advancements in single-cell and single-nucleus genomics enable high-resolution brain atlases (cell composition, gene expression, circuit connectivity).
Purpose of the Study:
- To discuss leveraging mutant models and genomics to systematically define NDD etiology at cellular resolution.
- To review progress in applying single-cell and spatial transcriptomics to interrogate NDDs in human tissue and models.
Main Methods:
- Application of single-cell and spatial transcriptomics.
- Interrogation of developmental trajectories, cellular composition, circuit activity, and connectivity.
- Analysis across human tissue and NDD models.
Main Results:
- Progress in applying advanced genomics to define NDD mechanisms at cellular resolution.
- Considerations for scaling these approaches to maximize insights and reproducibility.
- Identification of molecular, cellular, and circuit-level convergence across NDDs.
Conclusions:
- Standardized application of genomics technologies can define etiologies of individual NDDs.
- These approaches promise to reveal shared mechanisms underlying diverse neurodevelopmental disorders.
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