Investigating the mechanisms and modifiers of Fragile X-associated tremor/ataxia syndrome (FXTAS)
FXTAS: Mechanisms and Modifiers
This study is looking into how a genetic condition called FXTAS affects adults, focusing on the changes in brain function that lead to symptoms like tremors and memory issues, with the hope of finding new ways to help those who have it.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-10907684 on NIH RePORTER |
What this research studies
This research focuses on understanding Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder that primarily affects adults with specific genetic mutations. The study aims to explore the molecular mechanisms behind FXTAS, including how certain RNA molecules may disrupt cellular functions and lead to symptoms like tremors and cognitive decline. By utilizing various animal models, researchers will investigate the effects of these genetic changes and their impact on brain function over time. The goal is to identify potential therapeutic targets that could alleviate symptoms for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are adults with premutation alleles in the FMR1 gene who are experiencing symptoms of FXTAS.
Not a fit: Patients without premutation alleles in the FMR1 gene or those who do not exhibit symptoms of FXTAS may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve the quality of life for individuals suffering from FXTAS.
How similar studies have performed: Previous research has shown promise in understanding FXTAS through similar molecular approaches, indicating a potential for success in this area.
Where this research is happening
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Nelson, David Loren — Baylor College of Medicine
- Study coordinator: Nelson, David Loren
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.