Understanding brain development in fragile X syndrome
Official title: Postnatal transient connectivity in brain development and implications in fragile x syndrome
Funded at Cold Spring Harbor Laboratory · NIH-11126842 · Data updated 2026-11-12
This study is looking at how the brain connections of young children with fragile X syndrome, a common cause of autism, develop and how their sensory experiences can help improve treatments, with the hope of finding better ways to support these kids as they grow.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cold Spring Harbor Laboratory NIH-funded |
| Lab location | 1 site (Cold Spring Harbor, United States) |
| Project start | July 1, 2024 |
| Project end | January 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $667,306 |
| NIH project number | 5R01MH136990-02 |
| Project ID | NIH-11126842 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with fragile X syndrome or autism spectrum disorders, particularly those under the age of 11.
✕Less likely to help
Patients who do not have fragile X syndrome or autism spectrum disorders may not benefit from this research.
What this research studies
This research investigates how transient connections in the brain develop during early childhood, particularly in children with fragile X syndrome, which is a common genetic cause of autism. The study focuses on how sensory experiences influence brain maturation and aims to explore the potential for pharmacological treatments that could enhance the effects of early behavioral therapies. By using mouse models, researchers will examine the mechanisms behind these transient connections to better understand their role in brain development. The goal is to identify ways to improve treatment strategies for children affected by fragile X syndrome and related autism spectrum disorders.
Why it matters
Potential benefit: If successful, this research could lead to improved therapeutic strategies for children with fragile X syndrome and autism, enhancing their developmental outcomes.
How similar studies have gone: While the specific mechanisms of transient connectivity in fragile X syndrome are not fully understood, similar approaches in studying brain development and autism have shown promise in other research.
Where this research is happening
-
Cold Spring Harbor Laboratory
Cold Spring Harbor, United States Active
Researchers
- Principal investigator: Pouchelon, Gabrielle — Cold Spring Harbor Laboratory
- Study coordinator: Pouchelon, Gabrielle
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.