Finding new genes that cause primary ciliary dyskinesia
Official title: Identification and characterization of novel genes causative for primary ciliary dyskinesia
Funded at Northwestern University at Chicago · NIH-11045856 · Data updated 2026-11-12
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.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University at Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project start | December 10, 2024 |
| Project end | November 30, 2028 |
| Funding year | 2025 |
| Award (this year) | $741,404 |
| NIH project number | 1R01HL173147-01A1 |
| Project ID | NIH-11045856 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with primary ciliary dyskinesia or those exhibiting symptoms related to the disorder.
✕Less likely to help
Patients with other respiratory disorders that are not related to ciliary dysfunction may not benefit from this research.
What this research studies
This research focuses on primary ciliary dyskinesia (PCD), a rare genetic disorder that leads to respiratory issues and other complications due to malfunctioning cilia. The team aims to identify new genes responsible for PCD, which could improve diagnostic tools that are currently slow and expensive. By using a model system derived from Xenopus embryonic skin, they will assess various aspects of ciliary function and formation. This approach may help uncover the genetic causes of PCD and enhance understanding of the disease.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic methods and targeted treatments for patients with primary ciliary dyskinesia.
How similar studies have gone: Previous research has successfully identified genes related to primary ciliary dyskinesia, but this project aims to explore novel genetic factors, making it a potentially groundbreaking effort.
Where this research is happening
-
Northwestern University at Chicago
Chicago, United States Active
Researchers
- Principal investigator: Mitchell, Brian Joseph — Northwestern University at Chicago
- 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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New genes behind primary ciliary dyskinesia
This project looks for new genes that cause primary ciliary dyskinesia to help people with chronic respiratory infections and related complications.
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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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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.