Understanding the role of SYNGAP1 in brain development and disorders
Non-synaptic function of Syngap1 in human neurodevelopmental disorders
This study is looking at how changes in the SYNGAP1 gene can affect brain development and may play a role in conditions like autism, using tiny brain models made from stem cells to better understand how these gene changes impact brain cell growth and behavior.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Southern California NIH-funded |
| Lab location | 1 site (Los Angeles, UNITED STATES) |
| Project ID | NIH-11029505 on NIH RePORTER |
What this research studies
This research investigates how mutations in the SYNGAP1 gene affect brain development and contribute to disorders like autism spectrum disorder (ASD). By using human brain organoids derived from pluripotent stem cells, the study aims to explore the functions of SYNGAP1 during early brain development. The researchers will analyze how these mutations influence the behavior of brain cells, particularly focusing on the division and development of neural progenitor cells. This approach could provide insights into the genetic underpinnings of neurodevelopmental disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with autism spectrum disorder or those with a family history of SYNGAP1 mutations.
Not a fit: Patients with neurodevelopmental disorders not associated with SYNGAP1 mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential new treatments for autism and related neurodevelopmental disorders.
How similar studies have performed: Previous research has shown promising results in understanding the role of genetic mutations in neurodevelopmental disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
Los Angeles, UNITED STATES
- University of Southern California — Los Angeles, United States (Active)
Researchers
- Principal investigator: Quadrato, Giorgia — University of Southern California
- Study coordinator: Quadrato, Giorgia
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.