How genes guide and keep the nerve circuits that control breathing
Genetic Control of Respiratory Motor Circuit Development, Connectivity and Maintenance
Researchers are learning how specific genes help form and maintain the nerve circuits that control breathing, which could eventually help people with ALS and other disorders that affect breathing.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Case Western Reserve University NIH-funded |
| Lab location | 1 site (Cleveland, United States) |
| Project ID | NIH-11263649 on NIH RePORTER |
What this research studies
Scientists are using genetically modified mice to study how Hox5 genes affect two key groups of neurons: rhythm-generating Dbx1-derived brainstem neurons and phrenic motor neurons that drive the diaphragm. They examine when these neurons are specified, how they connect with each other, and whether those connections are maintained over time. The team uses a new mouse model and molecular tools to trace changes and measures breathing output to link gene activity to function. The goal is to identify steps in circuit development and maintenance that could be targeted to preserve or restore breathing.
Who could benefit from this research
Good fit: This is preclinical lab research, so direct participation isn't open, but people with ALS or other neurodegenerative disorders that weaken respiratory nerves are the population most likely to benefit from future therapies based on these findings.
Not a fit: Patients whose breathing problems are driven primarily by lung disease (for example COPD or asthma) rather than loss of respiratory neurons are less likely to benefit from gene-targeted neural circuit therapies.
Why it matters
Potential benefit: If successful, this work could point to ways to protect or repair the nerve connections needed for breathing and help delay respiratory failure in ALS.
How similar studies have performed: Prior animal studies support a key role for Hox5 genes in breathing-circuit development, but moving from these basic findings to human treatments remains unproven.
Where this research is happening
Cleveland, United States
- Case Western Reserve University — Cleveland, United States (Active)
Researchers
- Principal investigator: Philippidou, Polyxeni — Case Western Reserve University
- Study coordinator: Philippidou, Polyxeni
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.