Understanding the Protein Connections Behind Ciliopathies
Mapping the ciliary interactome, an extensive protein interaction network underlying human ciliopathies
This project aims to uncover how tiny cell parts called cilia work and how problems with them cause birth defects and other conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas at Austin NIH-funded |
| Lab location | 1 site (Austin, United States) |
| Project ID | NIH-11121080 on NIH RePORTER |
What this research studies
Cilia are vital cell structures that help with cell communication and fluid movement in organs. When cilia don't form or function correctly, they can lead to a group of conditions known as ciliopathies, which affect many parts of the body like the brain, kidneys, and limbs. This work focuses on identifying the many proteins that interact to build and operate cilia, and how specific changes in these proteins lead to birth defects. Researchers are using advanced techniques like 3D modeling and studying human disease genes in model organisms to understand these complex processes.
Who could benefit from this research
Good fit: This foundational research is relevant to patients and families affected by ciliopathies, including those with birth defects linked to cilia problems.
Not a fit: Patients without conditions related to cilia or birth defects caused by cilia dysfunction would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a deeper understanding of ciliopathies, paving the way for new ways to diagnose or treat these complex conditions.
How similar studies have performed: While the overall field of cilia biology is well-established, this specific approach of comprehensively mapping the ciliary protein network and linking it to human disease alleles is a novel and in-depth investigation.
Where this research is happening
Austin, United States
- University of Texas at Austin — Austin, United States (Active)
Researchers
- Principal investigator: Wallingford, John B — University of Texas at Austin
- Study coordinator: Wallingford, John B
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.