New genes behind primary ciliary dyskinesia
Official title: Identification and characterization of novel genes causative for primary ciliary dyskinesia
Funded at Northwestern University · NIH-11243545 · Data updated 2026-11-12
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 start | December 10, 2024 |
| Project end | November 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $726,576 |
| NIH project number | 5R01HL173147-02 |
| Project ID | NIH-11243545 on NIH RePORTER |
Who could benefit from this research
✓Could help
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.
✕Less likely to help
People without PCD symptoms or with unrelated respiratory conditions are unlikely to receive direct benefit from this grant.
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.
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 gone: 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
-
Northwestern University
Chicago, United States Active
Researchers
- Principal investigator: Mitchell, Brian Joseph — Northwestern University
- Study coordinator: Mitchell, Brian Joseph
Related research
Other NIH-funded projects on the same topics.
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Personalized therapeutic oligonucleotides for primary ciliary dyskinesia
A new therapy approach uses customized RNA-based medicines to help people with Primary Ciliary Dyskinesia, a rare lung condition, by correcting how genes are read in airway cells.
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Pathogenesis and New Treatments for Primary Ciliary Dyskinesia (PCD)
Researchers are studying why Primary Ciliary Dyskinesia causes lung and airway problems and how to develop better treatments for people with this condition.
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How a lung cell protein (cytoglobin) affects cilia movement and organ placement
Researchers are looking at whether the airway protein cytoglobin controls nitric oxide and cilia motion in ways that could explain primary ciliary dyskinesia and situs inversus.
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Understanding and treating Primary Ciliary Dyskinesia
This study is looking at a pig model of Primary Ciliary Dyskinesia (PCD) to better understand how the condition affects breathing and to find new ways to help improve the lives of people living with PCD.
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Finding new genes that cause primary ciliary dyskinesia
This study is looking for new genes that cause primary ciliary dyskinesia (PCD), a condition that affects breathing, to help make faster and cheaper tests for it, using a special model from frog embryos to learn more about how cilia work.
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Understanding how a protein affects cilia movement and organ development in airway diseases.
This study is looking at how a protein called cytoglobin helps tiny hair-like structures in your airways work properly, which is important for people with primary ciliary dyskinesia (PCD) and related breathing problems, with the hope of finding better ways to diagnose and treat these conditions.
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.