Understanding the genetic causes of a craniofacial metabolic syndrome
Official title: Developmental and molecular basis for a craniofacial metabolic syndrome
Funded at University of California, San Francisco · NIH-11069936 · Data updated 2026-11-12
This study is looking into the genetic causes of Catel-Manzke syndrome, which affects how the face develops, by creating mouse models to better understand how these genetic changes happen and what they mean for growth and health.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project start | February 3, 2025 |
| Project end | January 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $252,752 |
| NIH project number | 1R21DE033889-01A1 |
| Project ID | NIH-11069936 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Catel-Manzke syndrome or related craniofacial metabolic syndromes.
✕Less likely to help
Patients with craniofacial conditions not linked to the genetic factors being studied may not benefit from this research.
What this research studies
This research investigates the genetic and molecular mechanisms behind Catel-Manzke syndrome, a condition that affects craniofacial development and is linked to specific genetic mutations. By using advanced gene-editing techniques, the study aims to create mouse models that mimic the syndrome, allowing researchers to observe how these genetic changes impact normal development and lead to disease. The project combines various scientific approaches, including transcriptomic and metabolomic analyses, to gain insights into the underlying causes of this syndrome and its effects on craniofacial and cardiovascular development.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of craniofacial syndromes, potentially informing new treatment strategies for affected patients.
How similar studies have gone: Previous research has successfully utilized similar genetic and molecular approaches to uncover the causes of other craniofacial syndromes, suggesting a promising avenue for this study.
Where this research is happening
-
University of California, San Francisco
San Francisco, United States Active
Researchers
- Principal investigator: Bush, Jeffrey Ohmann — University of California, San Francisco
- Study coordinator: Bush, Jeffrey Ohmann
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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.