Understanding how specific gene variants affect brain development in children
Official title: Functional characterization of clinically-identified coding variants in the transcription factor gene ZEB2
Funded at Hudson-Alpha Institute for Biotechnology · NIH-10953594 · Data updated 2026-11-12
This study is looking at the ZEB2 gene, which is important for children with Mowat-Wilson syndrome, to better understand how certain rare changes in this gene affect brain development and function.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Hudson-Alpha Institute for Biotechnology NIH-funded |
| Lab location | 1 site (Huntsville, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $140,500 |
| NIH project number | 1R03TR004835-01A1 |
| Project ID | NIH-10953594 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with Mowat-Wilson syndrome or those with identified ZEB2 gene variants.
✕Less likely to help
Patients without any identified mutations in the ZEB2 gene or those with other unrelated developmental disabilities may not benefit from this research.
What this research studies
This research investigates the ZEB2 gene, which is linked to Mowat-Wilson syndrome, a condition that affects brain development and function in children. The study focuses on rare mutations in this gene that may not be well understood, particularly missense variants. Using advanced techniques like chromatin immunoprecipitation followed by sequencing, researchers will identify how these variants influence gene binding and expression in brain cells derived from induced pluripotent stem cells. This could provide insights into the mechanisms behind intellectual and developmental disabilities associated with ZEB2 mutations.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for children with Mowat-Wilson syndrome and related conditions.
How similar studies have gone: Previous research has successfully identified gene functions and binding sites in similar contexts, suggesting a promising approach for this study.
Where this research is happening
-
Hudson-Alpha Institute for Biotechnology
Huntsville, United States Active
Researchers
- Principal investigator: Partridge, Edwin Christopher — Hudson-Alpha Institute for Biotechnology
- Study coordinator: Partridge, Edwin Christopher
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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.