Investigating brain cell dysfunction in Fragile X Syndrome
Official title: Multilevel Analysis of Cortical Interneuron Dysfunction in Fragile X Syndrome
Funded at Columbia University Health Sciences · NIH-10746852 · Data updated 2026-11-12
This study is looking at how specific brain cells work in people with Fragile X Syndrome, using a mouse model to help understand their role in the condition and related issues like autism, with the hope of finding new ways to help.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | December 1, 2022 |
| Project end | November 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $200,442 |
| NIH project number | 5R21MH131947-02 |
| Project ID | NIH-10746852 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with Fragile X Syndrome or those exhibiting autism-like features 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 focuses on understanding how certain brain cells, known as cortical interneurons, function in individuals with Fragile X Syndrome (FXS). By studying a mouse model of FXS, researchers aim to uncover the role of these interneurons in the condition's development and how they may contribute to related disorders like autism. The study employs innovative techniques to analyze the number, distribution, and connections of these cells, which are often overlooked in FXS research. The findings could provide insights into the underlying mechanisms of FXS and potentially lead to new therapeutic strategies.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for individuals with Fragile X Syndrome and related neurodevelopmental disorders.
How similar studies have gone: While the specific focus on cortical interneurons in FXS is relatively novel, previous research has shown success in studying synaptic defects in related neurodevelopmental disorders.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Au, Edmund — Columbia University Health Sciences
- Study coordinator: Au, Edmund
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.