Understanding how gene mutations affect brain and facial development
Functional validation of sequence variants affecting neurodevelopmental and craniofacial phenotypes
['FUNDING_OTHER'] · EMORY UNIVERSITY · NIH-10701310
This study is looking at changes in the CTCF gene that can cause CTCF-Related Disorders, which affect brain development and can lead to different physical challenges, to help us understand how these changes impact the way genes work in the body.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | EMORY UNIVERSITY (nih funded) |
| Locations | 1 site (ATLANTA, UNITED STATES) |
| Trial ID | NIH-10701310 on ClinicalTrials.gov |
What this research studies
This research investigates mutations in the CTCF gene that lead to CTCF-Related Disorders (CRD), which are associated with neurodevelopmental delays and various physical abnormalities. By analyzing how these mutations disrupt the normal function of the CTCF protein, the research aims to uncover the mechanisms behind these disorders. The approach involves functional analyses of different CTCF mutations found in patients, focusing on how they affect gene expression during cell differentiation. This could provide valuable insights into the diverse phenotypes observed in individuals with CRD.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with CTCF-Related Disorders or those exhibiting related neurodevelopmental and craniofacial abnormalities.
Not a fit: Patients without CTCF mutations or those not affected by neurodevelopmental or craniofacial disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential treatments for patients with neurodevelopmental and craniofacial disorders.
How similar studies have performed: Other research has shown success in understanding gene mutations related to developmental disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
ATLANTA, UNITED STATES
- EMORY UNIVERSITY — ATLANTA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: CORCES, VICTOR G. — EMORY UNIVERSITY
- Study coordinator: CORCES, VICTOR G.
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.