Understanding the genetic causes of Prader-Willi syndrome
Official title: Molecular underpinnings of Prader-Willi syndrome
Funded at University of Connecticut Sch of Med/dnt · NIH-10662498 · Data updated 2026-11-12
This study is looking at how certain genes related to Prader-Willi syndrome work, especially a group called SNORD116, to see if turning on the right genes can help improve brain function and find new ways to treat the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Connecticut Sch of Med/dnt NIH-funded |
| Lab location | 1 site (Farmington, United States) |
| Project start | September 9, 2019 |
| Project end | June 30, 2025 |
| Funding year | 2023 |
| Award (this year) | $580,252 |
| NIH project number | 5R01HD099975-05 |
| Project ID | NIH-10662498 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Prader-Willi syndrome.
✕Less likely to help
Patients without Prader-Willi syndrome or those with other unrelated genetic disorders may not benefit from this research.
What this research studies
This research investigates the genetic mechanisms behind Prader-Willi syndrome (PWS), a disorder caused by the loss of specific genes on chromosome 15. The study focuses on a cluster of small nucleolar RNAs called SNORD116, which may play a role in regulating gene expression in neurons. By using induced pluripotent stem cells (iPSCs) and neuronal derivatives, researchers aim to explore how activating the maternal copy of SNORD116 can help understand its function and potential therapeutic approaches. The research involves manipulating specific proteins to activate these genes and studying their effects on neuronal behavior.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for managing Prader-Willi syndrome.
How similar studies have gone: Previous research has shown promise in understanding genetic disorders through similar molecular approaches, indicating potential for success in this area.
Where this research is happening
-
University of Connecticut Sch of Med/dnt
Farmington, United States Active
Researchers
- Principal investigator: Carmichael, Gordon G — University of Connecticut Sch of Med/dnt
- Study coordinator: Carmichael, Gordon G
Related research
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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.