Understanding how Ras signaling affects facial and dental development
Mechanisms of hyperactive Ras signaling in craniofacial and dental diseases
This study is looking into how certain genetic changes can cause problems with facial and dental development in people with RASopathies, and it invites patients to help researchers learn more about these conditions by comparing their experiences and participating in experiments.
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-11073943 on NIH RePORTER |
What this research studies
This research investigates the mechanisms behind craniofacial and dental malformations caused by mutations in the Ras/MAPK signaling pathway, which are linked to a group of syndromes known as RASopathies. By studying both human patients and mouse models, the research aims to uncover how these genetic mutations disrupt normal bone and dental formation. The approach includes advanced techniques such as transcriptomic and proteomic analyses, as well as the use of patient-derived stem cells to explore the cellular processes involved. Patients may contribute to the understanding of their conditions through comparative morphometrics and functional experiments.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with RASopathies, particularly those experiencing craniofacial and dental malformations.
Not a fit: Patients without RASopathies or those not exhibiting craniofacial or dental issues may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis, treatment, and prevention strategies for craniofacial and dental defects associated with RASopathies.
How similar studies have performed: Previous research has shown promising results in understanding the effects of Ras signaling in related conditions, indicating that this approach has potential for success.
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.