Connecting 3D genome misfolding to gene silencing in Fragile X syndrome
Official title: Connecting 3D genome misfolding to transcriptional silencing in fragile X syndrome
Funded at Washington University · NIH-11445523 · Data updated 2026-11-12
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.
Quick facts
| Grant type | R37 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | November 1, 2025 |
| Project end | January 31, 2029 |
| Funding year | 2026 |
| Award (this year) | $484,516 |
| NIH project number | 7R37MH120269-08 |
| Project ID | NIH-11445523 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with Fragile X syndrome or related autism spectrum features may contribute patient-derived samples or participate in future related studies.
✕Less likely to help
People without Fragile X or related autism spectrum conditions are unlikely to benefit directly from this study.
What this research studies
This project explores how structural changes in the genome (3D folding) relate to when and how genes are turned off in Fragile X syndrome. Using patient-derived cells and brain tissue, researchers combine advanced sequencing and imaging to map large-scale chromatin changes and their impact on gene networks linked to autism-like features. The work aims to identify how these genomic misfolds connect with symptoms such as social anxiety, learning difficulties, and neural connectivity issues. Results could reveal new targets for therapies that address the root chromatin changes in Fragile X.
Why it matters
Potential benefit: It could lead to new approaches that modulate genome organization to alleviate symptoms of Fragile X syndrome.
How similar studies have gone: Previous work using patient-derived systems and chromatin mapping has shown meaningful links between genome structure and gene expression in Fragile X and related conditions.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Phillips-Cremins, Jennifer Elizabeth — Washington University
- 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.
-
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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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.
-
Understanding anxiety in Fragile X syndrome across childhood
A study follows children and young people with Fragile X syndrome to understand how anxiety starts, stays, and what predicts it over time.
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.