How TGDS gene changes lead to Catel-Manzke and Pierre Robin facial differences
Official title: Developmental and molecular basis for a craniofacial metabolic syndrome
Funded at University of California, San Francisco · NIH-11270837 · Data updated 2026-11-12
Researchers will use gene-editing in mice to learn how mutations in the TGDS gene cause Catel-Manzke syndrome and Pierre Robin facial differences.
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 | 2026 |
| Award (this year) | $211,752 |
| NIH project number | 5R21DE033889-02 |
| Project ID | NIH-11270837 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with Catel-Manzke syndrome, Pierre Robin sequence, carrier family members, or families seeking explanations about TGDS-related features are the most directly interested in these findings.
✕Less likely to help
People with unrelated craniofacial conditions or those seeking immediate treatment options may not benefit directly from this early-stage animal research.
What this research studies
This project makes mouse versions of human TGDS mutations using CRISPR to model Catel-Manzke syndrome. Scientists will measure jaw and skull shapes with detailed imaging and morphometrics while profiling gene activity, sugar chains (glycomics), and small-molecule metabolites. By combining anatomy, genetics, and molecular data the team aims to pinpoint which developmental steps and metabolic pathways go wrong. Even though the work uses mice, the findings should help explain patient features and guide future diagnostic or treatment ideas.
Why it matters
Potential benefit: If successful, this work could reveal the biological steps that cause Catel-Manzke and Pierre Robin features, opening paths to better diagnosis, genetic counseling, and future therapies.
How similar studies have gone: CRISPR-made mouse models and combined molecular profiling have clarified causes in other craniofacial disorders, but applying these methods to TGDS and Catel-Manzke syndrome is largely new.
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.