Investigating how genetic variations in the 16p11.2 region affect brain development and disorders.
Official title: Effects of 16p11.2 copy number variation on neuronal development and pathology
Funded at Boston Children's Hospital · NIH-11026355 · Data updated 2026-11-12
This study is looking at how certain genetic changes in a specific area of our DNA might affect brain development and contribute to conditions like autism and schizophrenia, using brain cells made from people to learn more about how these changes impact brain function and behavior, which could help improve treatments for these disorders.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | March 10, 2023 |
| Project end | February 29, 2028 |
| Funding year | 2025 |
| Award (this year) | $699,666 |
| NIH project number | 5R01MH130356-03 |
| Project ID | NIH-11026355 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with autism spectrum disorder or schizophrenia, particularly those with known 16p11.2 genetic variations.
✕Less likely to help
Patients without genetic variations in the 16p11.2 region or those with unrelated neurodevelopmental disorders may not benefit from this research.
What this research studies
This research focuses on understanding the impact of genetic variations in the 16p11.2 region on brain development and associated disorders like autism and schizophrenia. By using human-derived neuronal models, the study aims to explore how these genetic changes affect neuronal differentiation, migration, and synapse formation. The researchers will analyze molecular pathways involved in these processes to uncover the mechanisms behind the behavioral and neurological effects observed in patients. This approach may lead to better insights into the treatment of neurodevelopmental disorders linked to these genetic variations.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential treatments for neurodevelopmental disorders such as autism and schizophrenia.
How similar studies have gone: Previous research has shown promising results in understanding the effects of genetic variations on neurodevelopment, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Sahin, Mustafa — Boston Children's Hospital
- Study coordinator: Sahin, Mustafa
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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.