Early short‑lived brain connections 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-11262944 · Data updated 2026-11-12
This project looks at how early‑life brain wiring shapes later development in Fragile X syndrome and whether changing that wiring could help children with FXS.
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 | 2026 |
| Award (this year) | $803,956 |
| NIH project number | 5R01MH136990-03 |
| Project ID | NIH-11262944 on NIH RePORTER |
Who could benefit from this research
✓Could help
This work is most relevant to infants and young children with Fragile X syndrome and their families, especially when diagnosis happens early.
✕Less likely to help
People without Fragile X or those with unrelated conditions are unlikely to directly benefit from this specific line of research.
What this research studies
As a parent or caregiver of someone with Fragile X, this work studies the short‑lived connections the brain makes after birth and how they influence later cortical development. Researchers will use a Fragile X mouse model and compare it to typical mice to trace sensory and neuromodulatory inputs that form and disappear during early life. They will map circuits, record neural activity, and test brief pharmacological manipulations during the early window to see if those changes alter how adult brain circuits mature. The aim is to learn whether targeting these early connections could complement behavioral therapies to improve outcomes for children with Fragile X.
Why it matters
Potential benefit: If successful, this research could identify new early treatment targets or timing strategies that improve brain development and symptoms in children with Fragile X syndrome.
How similar studies have gone: Prior animal studies show early sensory and neuromodulatory inputs shape brain circuits, but applying timed pharmacological approaches to mimic or boost behavioral therapy in Fragile X is relatively novel.
Where this research is happening
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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.