Exploring the role of UBE3A in Duplication 15q syndrome and its impact on autism
Official title: Investigating UBE3A as a driver gene in Duplication 15q syndrome
Funded at Univ of North Carolina Chapel Hill · NIH-11039965 · Data updated 2026-11-12
This study is looking at how a gene called UBE3A affects Duplication 15q syndrome, which is linked to autism, by using special mice to see how changing UBE3A levels can improve behavior and health, and it aims to find the best time to start treatments that could help people with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project start | March 1, 2023 |
| Project end | February 29, 2028 |
| Funding year | 2025 |
| Award (this year) | $363,931 |
| NIH project number | 5R01NS129914-03 |
| Project ID | NIH-11039965 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Duplication 15q syndrome, particularly those over 21 years old.
✕Less likely to help
Patients without Duplication 15q syndrome or those who do not have autism spectrum disorder may not benefit from this research.
What this research studies
This research investigates how the UBE3A gene contributes to Duplication 15q syndrome, a significant genetic cause of autism spectrum disorder. By using specially designed mice that mimic the genetic conditions of this syndrome, the researchers aim to understand how increasing UBE3A levels can affect behavior and physiology. The study will also explore the timing of interventions to normalize UBE3A expression, identifying the most effective age for treatment. This approach could lead to new therapeutic strategies for individuals affected by this condition.
Why it matters
Potential benefit: If successful, this research could lead to effective treatments for Duplication 15q syndrome, potentially improving outcomes for individuals with autism spectrum disorder.
How similar studies have gone: Previous research has shown promise in targeting genetic factors in autism, suggesting that this approach could yield significant insights and advancements.
Where this research is happening
-
Univ of North Carolina Chapel Hill
Chapel Hill, United States Active
Researchers
- Principal investigator: Philpot, Benjamin D — Univ of North Carolina Chapel Hill
- Study coordinator: Philpot, Benjamin D
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.