Understanding the role of SCN2A in autism spectrum disorder
The function of SCN2A in neocortex
This study is looking at how changes in a specific gene related to autism can affect brain cells, and it's for anyone interested in understanding more about autism and finding new ways to help.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-11007206 on NIH RePORTER |
What this research studies
This research investigates how mutations in the SCN2A gene, which is linked to autism spectrum disorder (ASD), affect the function of neurons in the brain. The study employs advanced techniques such as electrophysiology and 2-photon imaging to observe how changes in SCN2A expression influence neuronal activity and development. By using innovative mouse models, researchers aim to uncover the mechanisms by which SCN2A mutations contribute to the symptoms of ASD, potentially leading to new therapeutic strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research are adults diagnosed with autism spectrum disorder, particularly those with known SCN2A mutations.
Not a fit: Patients without autism spectrum disorder or those whose condition is not linked to SCN2A mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of autism spectrum disorder and inform the development of targeted treatments.
How similar studies have performed: Previous research has shown promising results in understanding the role of genetic mutations in autism, making this approach both relevant and potentially impactful.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Bender, Kevin J — University of California, San Francisco
- Study coordinator: Bender, Kevin J
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.