Sleep and daily rhythms in Smith‑Magenis syndrome
Circadian and homeostatic regulation of sleep in a diurnal model of Smith-Magenis Syndrome
Researchers are using a daytime-active animal model to learn why people with Smith‑Magenis syndrome often have reversed melatonin cycles and disturbed sleep.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-11303364 on NIH RePORTER |
What this research studies
This project uses a daytime-active rodent (Nile grass rat) with the same RAI1 gene change found in Smith‑Magenis syndrome to study sleep and circadian rhythms. The team created RAI1-deficient animals with CRISPR and will record sleep patterns, melatonin timing, and light responses mediated by melanopsin. They will manipulate light exposure and melatonin-related signals to see how those cues affect daytime wakefulness and nighttime sleep. Results aim to clarify biological causes of sleep disruption in SMS and point to better-timed light or melatonin approaches.
Who could benefit from this research
Good fit: People with a confirmed diagnosis of Smith‑Magenis syndrome (RAI1 mutation or 17p11.2 deletion), especially those with prominent sleep problems, are most relevant to this research.
Not a fit: Individuals without SMS or whose sleep issues are driven by unrelated medical causes are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, the work could point to better timing of light or melatonin treatments to improve sleep, daytime alertness, and related behavior in people with SMS.
How similar studies have performed: Previous work and clinical use of melatonin and light therapies suggest circadian signals can affect sleep in SMS, but using a diurnal grass‑rat model to probe the mechanisms is a newer approach.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Watson, Brendon O — University of Michigan at Ann Arbor
- Study coordinator: Watson, Brendon O
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.