Investigating genes linked to 3q29 microdeletion syndrome and its effects on brain development
Official title: Functional Analysis of 3q29 Microdeletion Syndrome Driver Genes
Funded at Yale University · NIH-10983346 · Data updated 2026-11-12
This study is looking at how certain genes might affect brain development in people with 3q29 microdeletion syndrome, which can be linked to conditions like autism and schizophrenia, using zebrafish to help find answers that could improve our understanding of these disorders.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project start | November 10, 2023 |
| Project end | October 31, 2025 |
| Funding year | 2025 |
| Award (this year) | $178,702 |
| NIH project number | 5R21MH133370-02 |
| Project ID | NIH-10983346 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with a confirmed diagnosis of 3q29 microdeletion syndrome or related neurodevelopmental disorders.
✕Less likely to help
Patients without a diagnosis of 3q29 microdeletion syndrome or those with unrelated neurodevelopmental conditions may not benefit from this research.
What this research studies
This research focuses on understanding the genetic factors associated with the 3q29 microdeletion syndrome, which is linked to neurodevelopmental disorders like autism and schizophrenia. By using zebrafish as a model organism, the team aims to rapidly screen and identify specific genes or combinations of genes that contribute to brain development issues, such as reduced cerebellar volume and behavioral dysfunction. The study will explore how these genes impact neurodevelopmental phenotypes, providing insights into the underlying mechanisms of these disorders.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for individuals affected by neurodevelopmental disorders linked to the 3q29 microdeletion.
How similar studies have gone: Previous research has shown success in identifying genetic drivers of neurodevelopmental disorders using similar innovative approaches, although this specific investigation into the 3q29 microdeletion is relatively novel.
Where this research is happening
-
Yale University
New Haven, United States Active
Researchers
- Principal investigator: Hoffman, Ellen J — Yale University
- Study coordinator: Hoffman, Ellen J
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.