Understanding how specific enzymes affect cartilage and bone development in the face
Official title: Investigating the roles of the H3K4 methyltransferases KMT2C and KMT2D in chondrocyte differentiation and endochondral ossification
Funded at Univ of North Carolina Chapel Hill · NIH-10998935 · Data updated 2026-11-12
This study is looking at how two specific enzymes affect the growth of cartilage and bones in the face, especially in people with Kabuki syndrome, to better understand the causes of this condition and how it leads to skeletal issues.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project start | August 1, 2024 |
| Project end | October 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $43,374 |
| NIH project number | 1F31DE033916-01A1 |
| Project ID | NIH-10998935 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with craniofacial disorders, particularly those with Kabuki syndrome or related conditions.
✕Less likely to help
Patients without craniofacial abnormalities or those not affected by genetic mutations in KMT2C or KMT2D may not benefit from this research.
What this research studies
This research investigates the roles of two enzymes, KMT2C and KMT2D, in the development of cartilage and bone in the craniofacial region. It focuses on how mutations in these enzymes can lead to craniofacial disorders, particularly Kabuki syndrome, which is characterized by skeletal defects. By studying neural crest cells, which are the precursors to facial bones and cartilage, the research aims to uncover the molecular mechanisms that govern chondrocyte differentiation and bone formation. The approach includes genomic methodologies to analyze gene expression and chromatin changes during the differentiation process.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential treatments for craniofacial disorders, enhancing patient outcomes.
How similar studies have gone: Previous research has shown promising results in understanding the roles of chromatin-modifying enzymes in craniofacial development, indicating that this approach has potential for success.
Where this research is happening
-
Univ of North Carolina Chapel Hill
Chapel Hill, United States Active
Researchers
- Principal investigator: Quickstad, Gabrielle Alair — Univ of North Carolina Chapel Hill
- Study coordinator: Quickstad, Gabrielle Alair
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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.