How ATRX and CTCF Shapes Brain Development
Official title: CTCF-dependent mechanisms of ATRX in neuronal differentiation
Funded at Wistar Institute · NIH-11367529 · Data updated 2026-11-12
This NIH grant explores how changes in the ATRX gene affect brain cell development and the organization of the genome, which may help people with related developmental brain conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Wistar Institute NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | July 1, 2022 |
| Project end | June 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $530,646 |
| NIH project number | 5R01NS127828-05 |
| Project ID | NIH-11367529 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with ATRX syndrome or related neurodevelopmental conditions caused by ATRX mutations.
✕Less likely to help
People without ATRX-related conditions may not directly benefit from these findings.
What this research studies
The project studies how ATRX mutations in specific domains influence brain cell differentiation and genome architecture. It uses mouse embryonic stem cells to model ATRX-related changes and to observe how these mutations alter CTCF localization and chromatin interactions. Findings could reveal why some ATRX mutations lead to more severe intellectual disability and how genome organization contributes to neurodevelopment. The research aims to link molecular changes to developmental outcomes in the brain biology of ATRX-associated conditions.
Why it matters
Potential benefit: Advances in understanding ATRX-driven brain development could inform future therapies or diagnostics for ATRX-related neurodevelopmental disorders.
How similar studies have gone: Preliminary data suggest ATRX mutations affect CTCF localization and genome organization, indicating this line of research is promising but still exploratory.
Where this research is happening
-
Wistar Institute
Philadelphia, United States Active
Researchers
- Principal investigator: Sarma, Kavitha — Wistar Institute
- Study coordinator: Sarma, Kavitha
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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.