Understanding genetic changes in a rare developmental disorder linked to the Shoc2 gene
Official title: Functional Characterization of Genetic Variants in Rare Disease Associated with Shoc2 scaffold
Funded at University of Kentucky · NIH-11164232 · Data updated 2026-11-12
This study is looking at how changes in the Shoc2 gene might cause Noonan syndrome with loose anagen hair, which affects different parts of the body, and it's using zebrafish to help understand how these gene changes mess with normal cell functions.
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 start | May 1, 2025 |
| Project end | January 31, 2030 |
| Funding year | 2025 |
| Award (this year) | $419,204 |
| NIH project number | 1R01HD118715-01 |
| Project ID | NIH-11164232 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old diagnosed with Noonan syndrome or related developmental disorders linked to Shoc2 mutations.
✕Less likely to help
Patients with Noonan syndrome not associated with Shoc2 mutations or those over the age of 11 may not benefit from this research.
What this research studies
This research investigates how mutations in the Shoc2 gene contribute to Noonan syndrome with loose anagen hair (NSLH), a condition that affects various body systems including craniofacial features and the digestive system. By using zebrafish models that carry specific genetic variants found in patients, the study aims to uncover how these mutations disrupt normal cell signaling and differentiation processes. The research employs biochemical and biophysical techniques to analyze the interactions of Shoc2 with other proteins and its role in cellular functions, providing insights into the mechanisms behind the diverse symptoms of NSLH.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of Noonan syndrome and potentially inform new treatment strategies for affected patients.
How similar studies have gone: Previous research has shown success in using zebrafish models to study genetic variants and their effects on development, suggesting that this approach is promising.
Where this research is happening
-
University of Kentucky
Lexington, United States Active
Researchers
- Principal investigator: Galperin, Emilia — University of Kentucky
- Study coordinator: Galperin, Emilia
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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.