Finding new genes that cause primary ciliary dyskinesia
Identification and characterization of novel genes causative for 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.
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 ID | NIH-11045856 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with primary ciliary dyskinesia or those exhibiting symptoms related to the disorder.
Not a fit: Patients with other respiratory disorders that are not related to ciliary dysfunction may not benefit from this research.
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 performed: 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
Chicago, United States
- Northwestern University at Chicago — Chicago, United States (Active)
Researchers
- Principal investigator: Mitchell, Brian Joseph — Northwestern University at Chicago
- 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.