Understanding how a specific protein affects Fragile X Syndrome
Official title: Elucidating Fragile X Syndrome by Investigating FMRP Molecular Function
Funded at Univ of Massachusetts Med Sch Worcester · NIH-10726851 · Data updated 2026-11-12
This study is looking at how a protein called FMRP, which is important for people with Fragile X Syndrome, works in the brain to help control how proteins are made, with the hope of finding new treatments to ease the symptoms of this condition.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project start | July 7, 2023 |
| Project end | July 6, 2025 |
| Funding year | 2023 |
| Award (this year) | $460,625 |
| NIH project number | 1R21MH134127-01 |
| Project ID | NIH-10726851 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Fragile X Syndrome, particularly children who exhibit symptoms such as developmental delays and aggression.
✕Less likely to help
Patients without a diagnosis of Fragile X Syndrome or those with unrelated developmental disorders may not benefit from this research.
What this research studies
This research investigates the molecular function of FMRP, a protein linked to Fragile X Syndrome, which is the most common inherited cause of intellectual impairment and autism. By studying FMRP's interactions with mRNA in the brain, the research aims to uncover how it regulates protein synthesis and contributes to the symptoms of Fragile X. Using Fmr1 knockout mice as a model, the team will explore the mechanisms behind FMRP's role in translational stalling, which could lead to new therapeutic strategies. The ultimate goal is to identify potential small-molecule treatments that could alleviate the symptoms of this disorder.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve the quality of life for individuals with Fragile X Syndrome.
How similar studies have gone: Previous research has shown promise in understanding the molecular mechanisms of FMRP, but this specific approach focusing on translational stalling is relatively novel.
Where this research is happening
-
Univ of Massachusetts Med Sch Worcester
Worcester, United States Active
Researchers
- Principal investigator: Richter, Joel D — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Richter, Joel D
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.