Investigating how genetic variations in the 16p11.2 region affect brain development and disorders.
Effects of 16p11.2 copy number variation on neuronal development and pathology
['FUNDING_R01'] · BOSTON CHILDREN'S HOSPITAL · NIH-11026355
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
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BOSTON CHILDREN'S HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11026355 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with autism spectrum disorder or schizophrenia, particularly those with known 16p11.2 genetic variations.
Not a fit: Patients without genetic variations in the 16p11.2 region or those with unrelated neurodevelopmental disorders may not benefit from this research.
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 performed: 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, UNITED STATES
- BOSTON CHILDREN'S HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SAHIN, MUSTAFA — BOSTON CHILDREN'S HOSPITAL
- Study coordinator: SAHIN, MUSTAFA
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.