Understanding Birth Defects in Ciliopathy Conditions
Mechanisms of ciliopathy associated structural birth defects
This research aims to better understand how problems with cilia, tiny cell structures, lead to birth defects in people with ciliopathy conditions.
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 ID | NIH-11184258 on NIH RePORTER |
What this research studies
Our bodies have tiny structures called cilia that are crucial for development, and when they don't work correctly, they can cause a wide range of birth defects and health issues. This project will look at changes in the genes that make cilia proteins, using information from patient databases and samples. We will then test these genetic changes in the lab to see how they affect cilia function and contribute to the birth defects seen in ciliopathy patients. This work helps us uncover the root causes of these conditions.
Who could benefit from this research
Good fit: This research is focused on understanding the genetic causes of ciliopathy conditions, particularly those involving structural birth defects.
Not a fit: Patients not affected by ciliopathy conditions or related birth defects would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a deeper understanding of ciliopathy birth defects, potentially paving the way for new ways to diagnose or treat these complex conditions in the future.
How similar studies have performed: This project builds upon existing knowledge and tools developed in related centers, extending previous work to identify and characterize specific genetic variants.
Where this research is happening
Birmingham, United States
- 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.
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.