Fragile X syndrome in the human brain
Official title: Characterizing Fragile X syndrome in the human brain
Funded at University of Colorado Denver · NIH-11369399 · Data updated 2026-11-12
A study using post-mortem human brain tissue to better understand Fragile X syndrome and autism at the cellular level, aiming to uncover clues for future therapies.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Colorado Denver NIH-funded |
| Lab location | 1 site (Aurora, UNITED STATES) |
| Project start | August 14, 2026 |
| Project end | July 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $429,000 |
| NIH project number | 1R21HD119274-01A1 |
| Project ID | NIH-11369399 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals who have Fragile X syndrome and contribute post-mmortem brain tissue for research.
✕Less likely to help
People without Fragile X or without access to post-mortem tissue donation may not benefit directly.
What this research studies
Researchers will examine gene activity in specific brain cell types from people with Fragile X syndrome to understand how the condition affects the brain. They will also look at how the genetic repeat and its methylation pattern influence expression of the FMR1 gene. By studying human tissue directly, they hope to identify targets that could be treated in the future. The work could pave the way for precision therapies for Fragile X and related autism conditions.
Why it matters
Potential benefit: This research could guide development of targeted treatments for Fragile X and autism by revealing human-specific disease mechanisms.
How similar studies have gone: Past studies using human tissue have deepened understanding of Fragile X, but this project aims to translate those insights into therapeutic strategies.
Where this research is happening
-
University of Colorado Denver
Aurora, United States Active
Researchers
- Principal investigator: Dias, Caroline Marie — University of Colorado Denver
- Study coordinator: Dias, Caroline Marie
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.
-
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.
-
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.