Understanding how specific genes guide cell development to prevent birth defects
The Role of SoxE Transcription Factors in Neural Crest Cell Specialization
['FUNDING_OTHER'] · UNIVERSITY OF KENTUCKY · NIH-11192863
This research explores how certain genes called SoxE transcription factors direct the development of special cells to prevent birth defects, especially those affecting the face and head.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF KENTUCKY (nih funded) |
| Locations | 1 site (LEXINGTON, UNITED STATES) |
| Trial ID | NIH-11192863 on ClinicalTrials.gov |
What this research studies
Many birth defects, particularly those affecting the face and head, happen because of problems with how special cells called neural crest cells develop. These cells are unique because they can turn into many different types of tissues, like bone, cartilage, skin pigment, and nerve cells. This project aims to understand how specific genes, known as SoxE factors, guide these neural crest cells to become specialized tissues. By using advanced genetic techniques, we hope to discover the exact steps and timing of how these genes work. This knowledge is crucial because errors in these genes are linked to conditions like Campomelic dysplasia and Waardenburg syndrome, which cause distinct craniofacial differences.
Who could benefit from this research
Good fit: This foundational research is relevant to patients and families affected by neurocristopathies, such as Campomelic dysplasia and Waardenburg syndrome, which involve malformations of the craniofacial complex.
Not a fit: Patients without conditions related to neural crest cell development or craniofacial malformations would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a deeper understanding of how birth defects like Campomelic dysplasia and Waardenburg syndrome occur, potentially paving the way for new ways to prevent or treat them.
How similar studies have performed: While the general role of SoxE factors in neural crest development is known, this project addresses an outstanding question about how individual SoxE factors lead to specific neural crest specialization, building on existing knowledge but exploring a novel aspect.
Where this research is happening
LEXINGTON, UNITED STATES
- UNIVERSITY OF KENTUCKY — LEXINGTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SCHOCK, ELIZABETH (BETSY) — UNIVERSITY OF KENTUCKY
- Study coordinator: SCHOCK, ELIZABETH (BETSY)
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.