Understanding how 3D genome misfolding affects gene expression in fragile X syndrome
Official title: Connecting 3D genome misfolding to transcriptional silencing in fragile X syndrome
Funded at University of Pennsylvania · NIH-11092845 · Data updated 2026-11-12
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 start | August 15, 2019 |
| Project end | January 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $555,605 |
| NIH project number | 5R01MH120269-07 |
| Project ID | NIH-11092845 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 who exhibit symptoms associated with the condition.
✕Less likely to help
Patients without a diagnosis of fragile X syndrome or related neurodevelopmental disorders may not benefit from this research.
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.
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 gone: 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
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Phillips-Cremins, Jennifer Elizabeth — University of Pennsylvania
- Study coordinator: Phillips-Cremins, Jennifer Elizabeth
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.
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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.
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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.