Investigating how a specific gene affects brain function and behaviors in autism
Role of ASTN2 in Cerebellar Circuit Function and ASD-related Behaviors
This study is looking at how changes in the ASTN2 gene might affect brain circuits and behaviors related to autism, using mice to help us understand how these genetic differences could influence motor skills and thinking in people with autism.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Rockefeller University NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10990506 on NIH RePORTER |
What this research studies
This research explores the role of the ASTN2 gene in the functioning of cerebellar circuits and its impact on behaviors associated with autism spectrum disorder (ASD). By examining genetic variations in ASTN2, the study aims to understand how these mutations may lead to changes in brain function and contribute to ASD-related symptoms. The research involves creating genetic models to study the effects of ASTN2 on cerebellar neurons, which are crucial for motor control and cognitive functions. Through these models, researchers will assess how disruptions in ASTN2 affect synaptic activity and behavior in mice, providing insights that could translate to human conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with autism spectrum disorder, particularly those with known genetic variations related to the ASTN2 gene.
Not a fit: Patients without autism spectrum disorder or those whose conditions are not linked to genetic factors affecting cerebellar function may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new understanding and potential interventions for individuals with autism spectrum disorder.
How similar studies have performed: Previous research has shown promising results in understanding the genetic underpinnings of autism through similar approaches, indicating a potential for success in this area.
Where this research is happening
New York, United States
- Rockefeller University — New York, United States (Active)
Researchers
- Principal investigator: Hatten, Mary Elizabeth — Rockefeller University
- Study coordinator: Hatten, Mary Elizabeth
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.