Understanding Fragile X Syndrome in Families
Genotype-Phenotype Relationships in Fragile X Families
This project looks at how Fragile X syndrome affects women differently than men, especially regarding symptoms like anxiety, pain, and immune issues.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California at Davis NIH-funded |
| Lab location | 1 site (Davis, United States) |
| Project ID | NIH-11111173 on NIH RePORTER |
What this research studies
We are working to understand why women with Fragile X-associated tremor/ataxia syndrome (FXTAS) often experience more neuropsychiatric problems, such as pain and anxiety, and immune system involvement, compared to men. While men with FXTAS typically have more severe tremor and balance issues, women show a different pattern of symptoms. Our goal is to characterize these differences and explore the underlying molecular reasons, including how RNA toxicity and inflammation might play a role in these varied symptoms.
Who could benefit from this research
Good fit: Ideal candidates for this type of research would be women and men with Fragile X-associated tremor/ataxia syndrome (FXTAS) or those who carry the premutation.
Not a fit: Patients without Fragile X-associated tremor/ataxia syndrome or the premutation would likely not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to better ways to identify and treat the specific symptoms experienced by women with FXTAS, improving their quality of life.
How similar studies have performed: This research builds upon previous work that first described FXTAS and has identified some sex differences, but this project aims to deeply explore the unique challenges faced by women.
Where this research is happening
Davis, United States
- University of California at Davis — Davis, United States (Active)
Researchers
- Principal investigator: Hagerman, Randi J. — University of California at Davis
- Study coordinator: Hagerman, Randi J.
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.