Creating a rodent model to study Smith-Magenis Syndrome
Developing a Diurnal Rodent Model for Smith-Magenis Syndrome
This study is creating a special type of lab rat to help us understand Smith-Magenis Syndrome better, especially how it affects sleep and behavior, so we can find new ways to help people with this condition.
Quick facts
| Grant type | R03 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-10882777 on NIH RePORTER |
What this research studies
This research focuses on developing a new rodent model to better understand Smith-Magenis Syndrome (SMS), a rare neurodevelopmental disorder that affects sleep patterns and behavior. The study aims to investigate how the loss of the RAI1 gene impacts circadian rhythms and cognitive function, which are disrupted in individuals with SMS. By creating a model that accurately reflects the sleep disturbances seen in SMS patients, researchers hope to uncover the underlying mechanisms of the disorder and explore potential treatments. The approach involves genetic modifications in rodents to mimic the symptoms of SMS, particularly the altered sleep/wake cycles.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Smith-Magenis Syndrome, particularly those experiencing significant sleep disturbances.
Not a fit: Patients without a diagnosis of Smith-Magenis Syndrome or those with unrelated sleep disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of Smith-Magenis Syndrome, potentially enhancing the quality of life for affected individuals.
How similar studies have performed: While there have been studies on Rai1-knockout mice, this specific approach to developing a diurnal rodent model for SMS is novel and has not been extensively tested.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Iwase, Shigeki — University of Michigan at Ann Arbor
- Study coordinator: Iwase, Shigeki
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.