Understanding how cilia defects lead to birth defects
Official title: Mechanisms of ciliopathy associated structural birth defects
Funded at University of Alabama at Birmingham · NIH-10794534 · Data updated 2026-11-12
This study is looking at how tiny structures in our cells, called cilia, can cause birth defects when they don't work properly, and it aims to find out which genetic changes are responsible for these issues, so that families affected by these conditions can better understand what’s happening.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alabama at Birmingham NIH-funded |
| Lab location | 1 site (Birmingham, United States) |
| Project start | September 6, 2024 |
| Project end | July 31, 2029 |
| Funding year | 2024 |
| Award (this year) | $602,956 |
| NIH project number | 1R01HD111399-01A1 |
| Project ID | NIH-10794534 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with ciliopathy syndromes or those with unexplained birth defects potentially linked to cilia dysfunction.
✕Less likely to help
Patients without any known genetic or developmental issues related to cilia are unlikely to benefit from this research.
What this research studies
This research investigates the role of cilia, tiny cellular structures, in causing various birth defects when their function is disrupted. By analyzing genetic variants associated with ciliopathy syndromes, the study aims to identify specific mutations that lead to these conditions. The research employs advanced techniques, including CRISPR, to assess the impact of these variants on cellular functions and developmental processes. Patients with ciliopathy-related birth defects may benefit from insights gained through this research, which seeks to clarify the underlying mechanisms of these syndromes.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for patients with ciliopathy-related birth defects.
How similar studies have gone: Previous research has shown promising results in understanding ciliopathies through genetic analysis and CRISPR techniques, indicating a potential for success in this area.
Where this research is happening
-
University of Alabama at Birmingham
Birmingham, United States Active
Researchers
- Principal investigator: Yoder, Bradley K. — University of Alabama at Birmingham
- Study coordinator: Yoder, Bradley K.
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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.