Investigating how a gene affects sleep and behavior in Smith-Kingsmore Syndrome
Official title: Role of mTOR in Circadian and Sleep Deregulation in Smith-Kingsmore Syndrome (SKS)
Funded at University of Florida · NIH-10997377 · Data updated 2026-11-12
This study is looking at how a genetic condition called Smith-Kingsmore Syndrome affects sleep and behavior, and it's for people with this syndrome to help find better ways to manage those challenges.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Florida NIH-funded |
| Lab location | 1 site (Gainesville, United States) |
| Project start | February 1, 2023 |
| Project end | December 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $421,830 |
| NIH project number | 5R01NS117457-03 |
| Project ID | NIH-10997377 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Smith-Kingsmore Syndrome, particularly those experiencing sleep and behavioral challenges.
✕Less likely to help
Patients without a diagnosis of Smith-Kingsmore Syndrome or those not experiencing significant sleep or behavioral issues may not benefit from this research.
What this research studies
This research focuses on Smith-Kingsmore Syndrome (SKS), a genetic disorder linked to mutations in the mTOR gene, which plays a crucial role in regulating brain function and sleep patterns. The study aims to understand how disruptions in the mTOR pathway contribute to sleep disturbances and behavioral issues in SKS patients. By creating cellular and mouse models of SKS, researchers will explore the mechanisms behind these symptoms and their impact on overall health. The findings could lead to better management strategies for sleep and behavioral challenges faced by individuals with SKS.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments for sleep disturbances and behavioral issues in patients with Smith-Kingsmore Syndrome.
How similar studies have gone: Previous research on the mTOR pathway has shown promise in understanding related conditions, suggesting that this approach may yield valuable insights for SKS.
Where this research is happening
-
University of Florida
Gainesville, United States Active
Researchers
- Principal investigator: Liu, Andrew C. — University of Florida
- Study coordinator: Liu, Andrew C.
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.