Understanding how Fragile X syndrome affects brain development and exploring new treatments
FMRP-mediated Regulation in Human Brain Development and Therapeutic Advancement
This study is looking at how Fragile X syndrome affects brain development and function, using special lab models to find new ways to help people with this condition.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project ID | NIH-10907594 on NIH RePORTER |
What this research studies
This research investigates Fragile X syndrome (FXS), a genetic disorder that leads to intellectual disability due to a mutation in the FMR1 gene. The team uses advanced human cell models, including 3D organoid cultures, to study how the absence of the fragile X mental retardation protein (FMRP) disrupts brain development and function. By examining the molecular mechanisms involved, the research aims to identify potential therapeutic strategies that could improve outcomes for individuals with FXS. The approach combines insights from animal models with innovative human-based systems to better understand the disease.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Fragile X syndrome or those who are carriers of the FMR1 gene mutation.
Not a fit: Patients with other forms of intellectual disabilities unrelated to Fragile X syndrome may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve cognitive and behavioral outcomes for individuals with Fragile X syndrome.
How similar studies have performed: Previous research using animal models has shown promise in understanding FXS, but this approach using human-derived models is relatively novel and untested.
Where this research is happening
Atlanta, United States
- Emory University — Atlanta, United States (Active)
Researchers
- Principal investigator: Jin, Peng — Emory University
- Study coordinator: Jin, Peng
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.