Understanding how genetic mutations affect limb development and disorders
Official title: Decoding the Mechanism of Pathogenic Enhancer Mutations In Congenital Limb Disorders
Funded at University of California-Irvine · NIH-11126631 · Data updated 2026-11-12
This study is looking at how certain changes in our DNA can cause limb problems and other related issues, focusing on a gene called Sonic Hedgehog, to help us understand why some people are born with extra fingers or toes and other challenges.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California-Irvine NIH-funded |
| Lab location | 1 site (Irvine, United States) |
| Project start | July 1, 2024 |
| Project end | April 30, 2029 |
| Funding year | 2025 |
| Award (this year) | $404,190 |
| NIH project number | 5R01HD115268-02 |
| Project ID | NIH-11126631 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with congenital limb disorders, particularly those with known genetic mutations in the SHH pathway.
✕Less likely to help
Patients without congenital limb disorders or those whose conditions are not linked to genetic mutations in the SHH pathway may not benefit from this research.
What this research studies
This research investigates how specific genetic mutations in regulatory regions of DNA can lead to congenital limb disorders and other related conditions. By focusing on the Sonic Hedgehog (SHH) gene and its enhancer variants, the study aims to uncover the mechanisms that cause abnormal gene expression during limb development. Using advanced transgenic mouse models, the researchers will explore how these mutations contribute to conditions like polydactyly and intellectual disabilities. The findings could provide insights into the genetic basis of these disorders and improve understanding of their etiology.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools and therapeutic strategies for congenital limb disorders and related conditions.
How similar studies have gone: Previous research has shown success in understanding genetic mutations related to limb development, but this specific approach using transgenic models is relatively novel.
Where this research is happening
-
University of California-Irvine
Irvine, United States Active
Researchers
- Principal investigator: Kvon, Evgeny — University of California-Irvine
- Study coordinator: Kvon, Evgeny
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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.