Understanding how gene activity shapes the face and contributes to facial conditions
Mapping and prediction of quantitative transcription factor dosage effects to understand variation in craniofacial morphology and disease
['FUNDING_OTHER'] · BOSTON CHILDREN'S HOSPITAL · NIH-11163424
This project aims to understand how small changes in gene activity affect facial development and lead to conditions that alter facial features.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BOSTON CHILDREN'S HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11163424 on ClinicalTrials.gov |
What this research studies
Our faces develop through a complex process guided by special proteins called transcription factors, which control when and where genes are turned on or off. Sometimes, even slight variations in the amount of these proteins can lead to differences in facial features or specific conditions. This work uses advanced tools to precisely adjust these protein levels in cells that build the face, helping us see how these changes affect development at a molecular, cellular, and structural level. By studying these fundamental processes, we hope to uncover the root causes of various craniofacial conditions.
Who could benefit from this research
Good fit: Patients with craniofacial conditions or those with genetic variations affecting facial development might eventually benefit from the knowledge gained from this fundamental research.
Not a fit: Patients whose conditions are not related to genetic variations in transcription factor dosage affecting craniofacial development may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a deeper understanding of the genetic causes of craniofacial conditions, potentially guiding future strategies for diagnosis or treatment.
How similar studies have performed: While the general concept of gene regulation is well-established, this project aims to develop novel quantitative tools and apply them to precisely understand the dosage effects of specific transcription factors in craniofacial development.
Where this research is happening
BOSTON, UNITED STATES
- BOSTON CHILDREN'S HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: NAQVI, SAHIN — BOSTON CHILDREN'S HOSPITAL
- Study coordinator: NAQVI, SAHIN
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.