Understanding how the SYNGAP1 gene affects brain connections
Investigating Syngap1 as a regulator of striatal synaptic function
This research explores how changes in the SYNGAP1 gene impact brain cell communication, especially in a part of the brain linked to movement and behavior, for individuals with SYNGAP1-related intellectual disability and autism.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California Berkeley NIH-funded |
| Lab location | 1 site (Berkeley, United States) |
| Project ID | NIH-11139563 on NIH RePORTER |
What this research studies
Our brains rely on precise communication between cells, called synapses, and the SYNGAP1 gene plays a crucial role in regulating these connections. When SYNGAP1 is not working correctly, it can lead to changes in how brain cells talk to each other, affecting learning and behavior. While we know a lot about SYNGAP1 in some brain areas, its role in the striatum, a region important for motor skills and repetitive behaviors, is less understood. This project aims to uncover exactly how the absence of SYNGAP1 impacts these striatal connections, which could explain some of the key symptoms seen in patients. By understanding these basic mechanisms, we hope to lay the groundwork for future treatments.
Who could benefit from this research
Good fit: This foundational research is for individuals and families affected by SYNGAP1-related intellectual disability or autism, as it seeks to understand the root causes of their condition.
Not a fit: Patients without SYNGAP1-related intellectual disability or autism are unlikely to directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could provide a deeper understanding of the brain changes in SYNGAP1-related disorders, potentially leading to new strategies for therapies that target specific brain regions.
How similar studies have performed: While SYNGAP1's role in other brain regions is well-studied, its specific functions in the striatum, which this project focuses on, are largely undefined, making this a novel area of exploration.
Where this research is happening
Berkeley, United States
- University of California Berkeley — Berkeley, United States (Active)
Researchers
- Principal investigator: Bateup, Helen S. — University of California Berkeley
- Study coordinator: Bateup, Helen S.
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.