Investigating how UBE3A gene regulation affects brain development
Understanding the mechanisms of UBE3A regulation in neuronal development
This study is looking at the UBE3A gene, which is important for brain health, to see how changes in this gene might cause conditions like Angelman syndrome and mood disorders, with the goal of finding new ways to help people who are affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project ID | NIH-10989880 on NIH RePORTER |
What this research studies
This research focuses on the UBE3A gene, which plays a crucial role in brain development and is linked to various psychiatric disorders. The team aims to understand how changes in UBE3A activity can lead to conditions like Angelman syndrome and mood disorders. They will use advanced assays to identify mutations in the UBE3A gene and analyze how these mutations affect its function. By uncovering the mechanisms that regulate UBE3A, the research hopes to provide insights into potential therapeutic targets for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Angelman syndrome, Dup15q syndrome, or other mood disorders linked to UBE3A mutations.
Not a fit: Patients without any genetic mutations related to UBE3A or those with unrelated psychiatric conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients with UBE3A-related disorders, improving their quality of life.
How similar studies have performed: Previous research has shown promising results in understanding the role of UBE3A in neuropsychiatric disorders, indicating that this approach has potential for success.
Where this research is happening
Saint Louis, United States
- Washington University — Saint Louis, United States (Active)
Researchers
- Principal investigator: Yi, Jason J — Washington University
- Study coordinator: Yi, Jason 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 below.