Understanding ATRX in Brain Development
CTCF-dependent mechanisms of ATRX in neuronal differentiation
This research explores how a protein called ATRX works in brain development and how changes in this protein can lead to ATRX syndrome.
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 ID | NIH-11128626 on NIH RePORTER |
What this research studies
We are learning more about a protein called ATRX, which is essential for the healthy development of brain cells. When ATRX has mutations, it can cause ATRX syndrome, leading to intellectual disability and other developmental challenges. Our work focuses on how different types of ATRX mutations affect a key process in the brain and how they might lead to varying symptoms. We are particularly interested in how ATRX interacts with another important protein called CTCF, which helps organize our genetic material.
Who could benefit from this research
Good fit: This foundational research is for patients and families affected by ATRX syndrome who are interested in the underlying causes of the condition and future treatment possibilities.
Not a fit: Patients without ATRX syndrome or related neurodevelopmental conditions may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of ATRX syndrome, potentially paving the way for new ways to help individuals affected by this condition.
How similar studies have performed: While ATRX's general roles are known, this research is novel in investigating the specific link between different mutation types and their effects on brain development, building on promising preliminary data.
Where this research is happening
Philadelphia, United States
- Wistar Institute — Philadelphia, United States (Active)
Researchers
- Principal investigator: Sarma, Kavitha — Wistar Institute
- Study coordinator: Sarma, Kavitha
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 below.