Investigating the role of the CHAMP1 gene in brain development and function.
Official title: Role of CHAMP1, a neurodevelopmental disorder high risk gene, in human brain development and function
Funded at Medical University of South Carolina · NIH-10936363 · Data updated 2026-11-12
This study is looking at how changes in the CHAMP1 gene might influence brain development and function in people with neurodevelopmental disorders like autism, using advanced imaging and analysis to better understand how these changes affect brain cells.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Medical University of South Carolina NIH-funded |
| Lab location | 1 site (Charleston, United States) |
| Project start | September 19, 2024 |
| Project end | June 30, 2029 |
| Funding year | 2024 |
| Award (this year) | $556,895 |
| NIH project number | 1R01HD113594-01A1 |
| Project ID | NIH-10936363 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with mutations in the CHAMP1 gene or those exhibiting symptoms of autism and related neurodevelopmental disorders.
✕Less likely to help
Patients without genetic mutations related to CHAMP1 or those not exhibiting neurodevelopmental disorders may not benefit from this research.
What this research studies
This research focuses on understanding how mutations in the CHAMP1 gene affect brain development and function, particularly in individuals with neurodevelopmental disorders like autism. By using advanced techniques such as high-resolution imaging and single-cell analysis, the study aims to explore how CHAMP1 loss of function impacts neurogenesis and neuronal migration in the human brain. The research will also examine the relationship between CHAMP1 and other genes associated with similar disorders, providing insights into the underlying mechanisms of these conditions.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for neurodevelopmental disorders, improving outcomes for affected individuals.
How similar studies have gone: While research on CHAMP1 in animal models has shown some promising results, this study is novel as it focuses on the human brain, which has not been extensively explored.
Where this research is happening
-
Medical University of South Carolina
Charleston, United States Active
Researchers
- Principal investigator: Berto, Stefano — Medical University of South Carolina
- Study coordinator: Berto, Stefano
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.