Investigating how SETD2 affects brain function and its link to Fragile X Syndrome
Official title: Mechanisms of Setd2 in cortical circuit function: Convergence with Fragile X Syndrome
Funded at Ut Southwestern Medical Center · NIH-11025896 · Data updated 2026-11-12
This study is looking at how a gene called SETD2 affects brain function and behavior in conditions like autism and Fragile X Syndrome, using mice to learn more about how changes in this gene might help us understand these disorders better and improve care for patients.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | January 5, 2024 |
| Project end | November 4, 2026 |
| Funding year | 2025 |
| Award (this year) | $40,506 |
| NIH project number | 5F31NS132473-02 |
| Project ID | NIH-11025896 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with autism spectrum disorders or those with a family history of Fragile X Syndrome.
✕Less likely to help
Patients without autism spectrum disorders or related neurodevelopmental conditions may not receive direct benefits from this research.
What this research studies
This research explores the role of the SETD2 gene in regulating brain function, particularly in relation to autism spectrum disorders (ASD) and Fragile X Syndrome. By studying mice with a specific deletion of the Setd2 gene in their forebrain neurons, researchers aim to understand how changes in histone methylation affect neuronal circuits and behavior. The approach involves examining brain tissue to measure circuit excitability and gene expression, which could reveal important insights into neurodevelopmental disorders. Patients may benefit from a better understanding of the genetic factors contributing to their conditions.
Why it matters
Potential benefit: If successful, this research could lead to new insights into the genetic mechanisms underlying autism and potentially inform future treatments.
How similar studies have gone: Previous research has shown promising results in understanding the role of histone modifications in neurodevelopmental disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Pope, Alexander — Ut Southwestern Medical Center
- Study coordinator: Pope, Alexander
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.