How changes in the Shoc2 gene cause Noonan syndrome with loose anagen hair
Functional Characterization of Genetic Variants in Rare Disease Associated with Shoc2 scaffold
This project aims to clarify how specific Shoc2 gene changes found in children with Noonan syndrome with loose anagen hair change cell behavior using zebrafish and lab methods.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Kentucky NIH-funded |
| Lab location | 1 site (Lexington, United States) |
| Project ID | NIH-11319864 on NIH RePORTER |
What this research studies
Researchers will model patient-derived Shoc2 gene variants in zebrafish to see how they alter development of tissues that come from the neural crest, such as face, heart, and parts of the digestive system. The team will combine observations in the fish with biochemical and biophysical lab tests to study how each variant changes Shoc2 protein interactions and where the protein sits inside cells. By comparing variants of unknown significance to known disease-causing changes, they hope to link specific molecular problems to the range of symptoms seen in patients. The work uses patient-identified gene variants but is conducted in the lab rather than as a clinical treatment trial.
Who could benefit from this research
Good fit: Individuals diagnosed with Noonan syndrome with loose anagen hair or people known to carry Shoc2 gene variants would be most relevant to this work.
Not a fit: People whose conditions are unrelated to Shoc2 variants or who need immediate clinical treatments are unlikely to get direct benefit from this laboratory-focused project.
Why it matters
Potential benefit: If successful, this work could help doctors interpret Shoc2 genetic test results and point to biological pathways to target for future therapies for children with NSLH.
How similar studies have performed: Zebrafish and lab-based studies have previously linked gene changes to developmental problems, but applying these methods systematically to many unknown Shoc2 variants is relatively new.
Where this research is happening
Lexington, United States
- University of Kentucky — Lexington, United States (Active)
Researchers
- Principal investigator: Galperin, Emilia — University of Kentucky
- Study coordinator: Galperin, Emilia
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.