New genes behind primary ciliary dyskinesia
Identification and characterization of novel genes causative for primary ciliary dyskinesia
This project looks for new genes that cause primary ciliary dyskinesia to help people with chronic respiratory infections and related complications.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project ID | NIH-11243545 on NIH RePORTER |
What this research studies
Researchers will use a well-established frog (Xenopus) model to recreate the airway multiciliated cells that clear mucus in the lung. The team has developed measurable lab tests for each step of how these cells form, dock, grow cilia, and generate coordinated motion. They will screen and characterize genes that, when defective, disrupt those steps and reduce mucus-clearing flow. The goal is to connect specific gene defects to the biological cause of PCD and improve diagnosis.
Who could benefit from this research
Good fit: People with a confirmed or suspected diagnosis of primary ciliary dyskinesia, or those with unexplained chronic airway infections and related symptoms, would be most relevant to this research.
Not a fit: People without PCD symptoms or with unrelated respiratory conditions are unlikely to receive direct benefit from this grant.
Why it matters
Potential benefit: If successful, this work could expand genetic testing and enable faster, more accurate diagnosis and more targeted care for people with PCD.
How similar studies have performed: Prior work has already identified over 50 PCD genes and model systems like Xenopus have successfully linked gene defects to cilia abnormalities, though many causative genes remain to be found.
Where this research is happening
Chicago, United States
- Northwestern University — Chicago, United States (Active)
Researchers
- Principal investigator: Mitchell, Brian Joseph — Northwestern University
- Study coordinator: Mitchell, Brian Joseph
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.