Understanding how ATRX affects brain cell development
CTCF-dependent mechanisms of ATRX in neuronal differentiation
['FUNDING_R01'] · WISTAR INSTITUTE · NIH-10875452
This study is looking at how changes in the ATRX gene can affect brain cell development and lead to certain neurodevelopmental disorders, using cutting-edge tools to see how these changes impact a key protein that helps organize our genes, so we can better understand how genetics relate to the symptoms people experience.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | WISTAR INSTITUTE (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-10875452 on ClinicalTrials.gov |
What this research studies
This research investigates the role of the ATRX gene in the differentiation of neuroprogenitor cells in the brain, particularly focusing on how mutations in ATRX can lead to various neurodevelopmental disorders. Using advanced techniques like CRISPR, the study aims to explore how these mutations affect the localization of CTCF, a protein crucial for genome architecture. By examining the differences in outcomes based on specific ATRX mutations, the research seeks to uncover the underlying mechanisms that link genetic variations to clinical symptoms in affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with ATRX syndrome or related neurodevelopmental disorders.
Not a fit: Patients without ATRX mutations or those with unrelated neurodevelopmental conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for neurodevelopmental disorders associated with ATRX mutations.
How similar studies have performed: Previous research has shown promising results in understanding the role of epigenetic factors in neurodevelopment, suggesting that this approach could yield valuable insights.
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.