Understanding how certain proteins affect gene expression in Fragile X Syndrome.
Official title: Elucidating the interplay between cohesin-mediated loop extrusion and heterochromatin in single cells.
Funded at University of Pennsylvania · NIH-11069044 · Data updated 2026-11-12
This study is looking into how certain proteins affect gene activity in people with Fragile X Syndrome, aiming to understand why some patients don’t respond to usual treatments that help with their condition.
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 start | January 1, 2025 |
| Project end | December 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $48,974 |
| NIH project number | 1F31HG014082-01A1 |
| Project ID | NIH-11069044 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Fragile X Syndrome or those carrying the mutation associated with the condition.
✕Less likely to help
Patients without a diagnosis of Fragile X Syndrome or those who do not carry the relevant genetic mutations may not benefit from this research.
What this research studies
This research investigates the mechanisms behind Fragile X Syndrome (FXS), focusing on how specific proteins, like cohesin, interact with chromatin to regulate gene expression at a single-cell level. The study aims to explore the relationship between the structure of DNA and the silencing of the FMR1 gene, which is crucial for brain function. By using advanced techniques to analyze individual cells, the research seeks to uncover why some patients with FXS do not respond to typical treatments aimed at reversing gene silencing.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for treating Fragile X Syndrome and improving outcomes for affected individuals.
How similar studies have gone: Previous research has shown promising results in understanding gene regulation mechanisms in similar genetic disorders, indicating potential for success in this novel approach.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Patel, Rohan Dipak — University of Pennsylvania
- Study coordinator: Patel, Rohan Dipak
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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.