Understanding how 3D genome misfolding affects gene expression in fragile X syndrome
Connecting 3D genome misfolding to transcriptional silencing in fragile X syndrome
This study is looking into how changes in the structure of our genes might cause issues in people with fragile X syndrome, which can lead to challenges like social anxiety and learning difficulties, and it aims to find new ways to help improve their lives.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11092845 on NIH RePORTER |
What this research studies
This research investigates the genetic mechanisms behind fragile X syndrome, a condition that leads to various developmental challenges. By examining how the 3D structure of the genome misfolds and affects gene expression, the study aims to uncover the underlying causes of symptoms such as social anxiety and learning disabilities. The researchers utilize advanced techniques like CRISPR and single-cell imaging to analyze patient-derived cells and brain tissues, focusing on specific genetic regions that may contribute to the disorder. This approach could provide insights into potential therapeutic targets for improving patient outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with fragile X syndrome or those who exhibit symptoms associated with the condition.
Not a fit: Patients without a diagnosis of fragile X syndrome or related neurodevelopmental disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new strategies for treating or managing fragile X syndrome and related conditions.
How similar studies have performed: Previous research has shown promising results in understanding genetic mechanisms in similar neurodevelopmental disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Phillips-Cremins, Jennifer Elizabeth — University of Pennsylvania
- Study coordinator: Phillips-Cremins, Jennifer Elizabeth
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.