Understanding cilia defects to help birth defects and ciliopathy patients
Official title: Extending the ciliary interactome, new connections between cilia, golgi, and human ciliopathies
Funded at University of Texas at Austin · NIH-11450431 · Data updated 2026-11-12
Scientists are studying how tiny cellular antennae called cilia form and malfunction in ciliopathies to find new ways to prevent or treat birth defects.
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 start | September 5, 2016 |
| Project end | May 31, 2031 |
| Funding year | 2026 |
| Award (this year) | $654,657 |
| NIH project number | 2R01HD085901-11 |
| Project ID | NIH-11450431 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates include individuals with ciliopathies or birth defects linked to ciliary dysfunction, and families interested in futures trials or genetic counseling.
✕Less likely to help
Patients without ciliopathy-related conditions may not directly benefit from this research.
What this research studies
Cilia are essential for communications between cells during early development. This project will combine advanced protein analysis, live-cell studies, and computer modeling to map how ciliary protein complexes assemble and how mutations disrupt them. By linking structural data with cellular behavior, researchers aim to uncover why certain ciliopathies arise and how they progress. The work uses human-relevant cell models to illuminate pathways that could be targeted in future therapies.
Why it matters
Potential benefit: If successful, findings could lead to better understanding of ciliopathies and identify new targets for therapies or diagnostics.
How similar studies have gone: Previous studies show that studying ciliary protein complexes can reveal mechanisms behind ciliopathies, supporting potential translational impact.
Where this research is happening
-
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
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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.