Therapeutic targeting of protein balance in Fragile X Syndrome
Official title: Therapeutic targeting of proteostasis in Fragile X Syndrome
Funded at Boston Children's Hospital · NIH-11344169 · Data updated 2026-11-12
A research project at Boston Children's Hospital investigates how imbalances in protein production and degradation in brain cells contribute to Fragile X Syndrome and whether adjusting this balance could reduce symptoms.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | August 1, 2026 |
| Project end | April 30, 2031 |
| Funding year | 2026 |
| Award (this year) | $497,364 |
| NIH project number | 1R01MH143987-01 |
| Project ID | NIH-11344169 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with Fragile X Syndrome or related neurodevelopmental disorders, particularly those with seizures or significant cognitive challenges.
✕Less likely to help
Participants without Fragile X or related symptoms may not directly benefit.
What this research studies
Fragile X Syndrome is a leading genetic cause of intellectual disability with limited mechanism-based treatments. The team will study why protein production and destruction pathways are overactive in neurons of a mouse model and how this affects brain circuits and seizures. They will test whether blocking proteasome activity can normalize neuron function and reduce hyperexcitability. The work combines molecular studies with experiments that link cellular changes to potential therapies.
Why it matters
Potential benefit: If successful, the project could point to new therapies that stabilize protein balance in the brain for people with Fragile X.
How similar studies have gone: Earlier evidence in models suggests that tuning proteasome activity can impact neuronal excitability, supporting potential relevance to humans.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Osterweil, Emily K — Boston Children's Hospital
- Study coordinator: Osterweil, Emily K
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.
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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.