Understanding how genetic and environmental factors affect birth defects in certain genetic syndromes
Official title: miRNA buffering mechanisms and phenotypic variability in genetic syndromes
Funded at Children's Research Institute · NIH-10823718 · Data updated 2026-11-12
This study is looking at how tiny molecules called miRNA help protect developing embryos from problems that can cause birth defects, especially in babies with 22q11.2 deletion syndrome, to better understand why some kids are affected more than others.
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 start | July 17, 2024 |
| Project end | June 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $273,000 |
| NIH project number | 1R21HD114297-01 |
| Project ID | NIH-10823718 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with 22q11.2 deletion syndrome or related genetic syndromes.
✕Less likely to help
Patients with genetic syndromes not related to 22q11.2 deletion syndrome may not receive direct benefits from this research.
What this research studies
This research investigates how the developing embryo can buffer genetic and environmental insults to prevent birth defects, focusing on the role of miRNA in this process. It aims to understand how disruptions in these buffering mechanisms contribute to the variability seen in 22q11.2 deletion syndrome, a common genetic condition. By studying model organisms, the research will explore the impact of miRNA on developmental robustness and how it may influence the severity of birth defects. The findings could lead to insights into the genetic and environmental factors that modify the effects of this syndrome.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of birth defects associated with genetic syndromes, potentially guiding future treatments.
How similar studies have gone: While the specific approach of investigating miRNA buffering in relation to birth defects is novel, similar studies have shown promise in understanding genetic syndromes and their variability.
Where this research is happening
-
Children's Research Institute
Washington, United States Active
Researchers
- Principal investigator: Zohn, Irene E — Children's Research Institute
- Study coordinator: Zohn, Irene E
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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.