Understanding how gene silencing affects fragile X syndrome
Elucidating the spatially coordinated mechanisms of transcriptional silencing in fragile X syndrome
This study is looking into how changes in a specific gene related to fragile X syndrome might affect the way genes work, which could help us understand more about the condition and its symptoms.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11081615 on NIH RePORTER |
What this research studies
This research investigates the mechanisms behind gene silencing in fragile X syndrome (FXS), a genetic condition that can lead to developmental issues. The study focuses on how the expansion of a specific DNA sequence in the FMR1 gene leads to changes in gene expression and the formation of heterochromatin domains, which may contribute to the symptoms of FXS. By examining these genetic and molecular processes, the research aims to uncover new insights into the pathophysiology of FXS and its clinical manifestations.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with fragile X syndrome or those who are carriers of the FMR1 gene mutation.
Not a fit: Patients without a diagnosis of fragile X syndrome or those not carrying the FMR1 gene mutation may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of fragile X syndrome, potentially informing new therapeutic strategies for affected individuals.
How similar studies have performed: Previous research has shown promising results in understanding gene regulation and chromatin dynamics, suggesting that this approach may yield valuable insights into fragile X syndrome.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Pham, Kenneth — University of Pennsylvania
- Study coordinator: Pham, Kenneth
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.