How overactive Ras signaling leads to facial and tooth differences in people with RASopathies
Mechanisms of hyperactive Ras signaling in craniofacial and dental diseases
This project looks at how genetic changes that turn on Ras signaling cause jaw, face, and tooth problems in people with RASopathy conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cedars-Sinai Medical Center NIH-funded |
| Lab location | 1 site (Los Angeles, United States) |
| Project ID | NIH-11300258 on NIH RePORTER |
What this research studies
Researchers will compare face and dental shapes from people with RASopathies to typical controls using imaging and morphometrics. They will study mouse models and cells made from patients' own stem cells to see what goes wrong during bone and enamel formation. The team will measure gene activity and proteins (transcriptomics and proteomics) and run functional lab tests to connect molecular changes to the visible birth differences. The goal is to pinpoint how Ras pathway changes produce craniofacial and dental malformations.
Who could benefit from this research
Good fit: Ideal candidates are people diagnosed with a RASopathy who are willing to share medical images, dental records, and possibly a small blood or tissue sample for stem-cell work.
Not a fit: People without RASopathy-related craniofacial or dental conditions, or those seeking immediate clinical treatment rather than research participation, are unlikely to receive direct benefit from this laboratory-focused project.
Why it matters
Potential benefit: If successful, this work could lead to better diagnosis, prevention, or new treatments for facial and dental problems in people with RASopathies.
How similar studies have performed: Previous mouse-model work and preliminary human analyses have suggested Ras pathway links to craniofacial and dental changes, but detailed mechanisms remain largely unproven.
Where this research is happening
Los Angeles, United States
- Cedars-Sinai Medical Center — Los Angeles, United States (Active)
Researchers
- Principal investigator: Klein, Ophir D — Cedars-Sinai Medical Center
- Study coordinator: Klein, Ophir D
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.