Understanding how genetic mutations affect limb development and disorders
Decoding the Mechanism of Pathogenic Enhancer Mutations In Congenital Limb Disorders
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA-IRVINE · NIH-11126631
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
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA-IRVINE (nih funded) |
| Locations | 1 site (IRVINE, UNITED STATES) |
| Trial ID | NIH-11126631 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with congenital limb disorders, particularly those with known genetic mutations in the SHH pathway.
Not a fit: 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.
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 performed: 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
IRVINE, UNITED STATES
- UNIVERSITY OF CALIFORNIA-IRVINE — IRVINE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: KVON, EVGENY — UNIVERSITY OF CALIFORNIA-IRVINE
- Study coordinator: KVON, EVGENY
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.
Conditions: autism spectral disorder, autism spectrum disorder, Autistic Disorder