Understanding how gene silencing affects fragile X syndrome
Official title: Elucidating the spatially coordinated mechanisms of transcriptional silencing in fragile X syndrome
Funded at University of Pennsylvania · NIH-11081615 · Data updated 2026-11-12
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 start | March 1, 2024 |
| Project end | February 28, 2028 |
| Funding year | 2025 |
| Award (this year) | $54,538 |
| NIH project number | 5F30HD114405-02 |
| Project ID | NIH-11081615 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with fragile X syndrome or those who are carriers of the FMR1 gene mutation.
✕Less likely to help
Patients without a diagnosis of fragile X syndrome or those not carrying the FMR1 gene mutation may not benefit from this research.
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.
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 gone: 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
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Pham, Kenneth — University of Pennsylvania
- Study coordinator: Pham, Kenneth
Related research
Other NIH-funded projects on the same topics.
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Understanding Fragile X Syndrome: How it progresses and affects daily life
A long-term study using existing Fragile X data to map how the condition changes over time in children and young adults, including how autism, race, and location influence outcomes.
-
Sleep and mood links in Fragile X Syndrome
A short, patient-friendly study to understand how sleep problems relate to mood and depressive symptoms in people with Fragile X–linked autism.
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Connecting 3D genome misfolding to gene silencing in Fragile X syndrome
A study in people with Fragile X syndrome focuses on how 3D genome folding errors may turn off important genes, contributing to the condition’s features.
-
Cortical circuit problems in Fragile X mice and people
Researchers are studying how brain circuits go awry in Fragile X syndrome by comparing mice and people to understand why certain brain rhythms and responses are altered.
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Brain biology in fragile X syndrome: how brain signals unfold and vary in patients
This grant supports research to understand brain signals and why symptoms vary in people with fragile X syndrome, aiming to translate findings into better care.
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Brain research on Fragile X Syndrome to improve therapies
A multi-year program studies brain function and differences in Fragile X Syndrome to help develop better treatments for people with FXS.
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.