Understanding how genetic changes lead to limb malformations
Official title: Deciphering Mechanisms of Limb Malformations Caused by Noncoding Variants In Vivo
Funded at University of California-Irvine · NIH-11001088 · Data updated 2026-11-12
This study is looking into how certain genetic changes can lead to limb malformations, which are common birth defects, to help us understand why they happen and how they affect limb development.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California-Irvine NIH-funded |
| Lab location | 1 site (Irvine, United States) |
| Project start | January 1, 2023 |
| Project end | December 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $46,427 |
| NIH project number | 5F30HD110233-03 |
| Project ID | NIH-11001088 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with non-syndromic limb malformations, particularly those with a family history of such conditions.
✕Less likely to help
Patients with limb malformations caused by known syndromic conditions or other non-genetic factors may not benefit from this research.
What this research studies
This research investigates the genetic factors that contribute to limb malformations, which are among the most common congenital abnormalities. By focusing on rare noncoding mutations that affect transcriptional enhancers, the study aims to uncover how these genetic changes lead to abnormal limb development. The researchers will utilize in vivo models to better understand the mechanisms behind these mutations and their effects on gene expression. This approach is crucial for identifying the specific conditions under which these genetic variants cause limb defects.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential interventions for congenital limb malformations.
How similar studies have gone: Previous research has shown promise in understanding genetic contributions to congenital malformations, but this specific approach focusing on noncoding variants is relatively novel.
Where this research is happening
-
University of California-Irvine
Irvine, United States Active
Researchers
- Principal investigator: Hollingsworth, Ethan W — University of California-Irvine
- Study coordinator: Hollingsworth, Ethan W
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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.