How mTOR affects sleep and daily rhythms in Smith‑Kingsmore syndrome
Role of mTOR in Circadian and Sleep Deregulation in Smith-Kingsmore Syndrome (SKS)
This project looks at whether overactive mTOR causes sleep and daily rhythm problems in people with Smith‑Kingsmore syndrome.
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 ID | NIH-11249207 on NIH RePORTER |
What this research studies
If you or your child has Smith‑Kingsmore syndrome (SKS), this work aims to understand why sleep and daily sleep/wake patterns are often disrupted. The team will make cell and mouse models that carry SKS mTOR mutations to study how those changes affect brain circuits that control sleep and daily rhythms. They will measure sleep, activity, feeding, and brain signals to link the gene changes to specific symptoms. The goal is to find biological targets that could guide treatments to improve sleep and related behaviors.
Who could benefit from this research
Good fit: People with genetically confirmed Smith‑Kingsmore syndrome (mTOR mutations) or their caregivers would be the most directly relevant group for this research.
Not a fit: People without SKS or those whose sleep issues come from unrelated causes are unlikely to benefit directly from this specific project.
Why it matters
Potential benefit: If successful, the work could point to treatments that correct sleep and behavior problems in SKS by targeting mTOR-related pathways.
How similar studies have performed: Related research on mTOR in conditions like tuberous sclerosis has shown that targeting mTOR can improve some brain symptoms, but SKS is newly described and needs focused study.
Where this research is happening
Gainesville, United States
- 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 below.