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Updated: Jul 23, 2026
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
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Functional Neurogenomics to Dissect Disease Mechanisms Across Models
Xinhe Zheng1, Jiwen Li1, Xin Jin1
1Department of Neuroscience and Dorris Neuroscience Center, Scripps Research, La Jolla, California, USA;
Annual Review of Genomics and Human Genetics
|May 5, 2025
Summary
Functional genomics is accelerating the understanding of genetic variants linked to neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD). These advanced methods help identify shared mechanisms and develop novel therapeutic strategies for NDDs.
Area of Science:
- Neuroscience
- Genetics
- Genomics
Background:
- Identifying genetic variants for neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), has advanced significantly.
- Extensive genetic data presents a challenge in understanding the functional impact of these variants.
- Functional genomics offers powerful tools to address this challenge.
Purpose of the Study:
- To review recent findings in NDDs from human genetics.
- To explore technological advancements and discoveries in functional neurogenomics for ASD and other NDDs.
- To discuss future applications of these methods for mechanism discovery and therapeutic development.
Main Methods:
- High-throughput and high-content screening.
- In vivo Perturb-seq.
- Multiomics profiling across cellular and animal models.
Main Results:
- Human genetics studies have identified numerous variants associated with NDDs.
- Functional genomics approaches are being applied at scale to understand variant function.
- These methods are revealing insights into ASD and other NDDs.
Conclusions:
- Functional neurogenomics is crucial for deciphering the impact of genetic variants in NDDs.
- These approaches can identify convergent biological mechanisms.
- This research paves the way for developing targeted therapeutic strategies for NDDs.
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