Understanding how genes and environment affect birth defects in genetic syndromes
miRNA buffering mechanisms and phenotypic variability in genetic syndromes
This project explores how our bodies naturally protect against problems during development, especially in genetic conditions like 22q11.2 deletion syndrome, to understand why some babies are born with birth defects.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Research Institute NIH-funded |
| Lab location | 1 site (Washington, United States) |
| Project ID | NIH-11139423 on NIH RePORTER |
What this research studies
Our bodies have amazing ways to protect a developing baby from harm, even when there are genetic or environmental challenges. This protection is like a "buffering system" that helps ensure normal development. This project aims to discover how these buffering systems work and if their disruption contributes to birth defects in genetic syndromes. We are particularly interested in how tiny molecules called miRNAs help buffer genetic and environmental influences. By focusing on 22q11.2 deletion syndrome, a common genetic condition with varied features, we hope to understand why some individuals are more affected than others.
Who could benefit from this research
Good fit: This foundational research is relevant to families affected by 22q11.2 deletion syndrome and other genetic conditions that cause birth defects.
Not a fit: Patients not affected by genetic syndromes or birth defects would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of why birth defects occur in genetic syndromes and potentially guide future strategies to prevent them.
How similar studies have performed: While the role of miRNA-mediated buffering in human birth defects is largely unknown, preliminary data from mouse models suggest a connection to vitamin A signaling.
Where this research is happening
Washington, United States
- Children's Research Institute — Washington, United States (Active)
Researchers
- Principal investigator: Zohn, Irene E — Children's Research Institute
- Study coordinator: Zohn, Irene E
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.