Brainstem Phox2b cells that sense CO2 and control breathing
Molecular physiology of Phox2b-expressing RTN chemoreceptor neurons
This project looks at how the Phox2b gene keeps CO2-sensing brainstem cells working so people with breathing disorders like congenital central hypoventilation syndrome (CCHS) might benefit.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Virginia NIH-funded |
| Lab location | 1 site (Charlottesville, United States) |
| Project ID | NIH-11312615 on NIH RePORTER |
What this research studies
You'll learn that researchers use mouse genetic models and viral tools to change Phox2b in tiny CO2-sensing brainstem neurons called the retrotrapezoid nucleus (RTN). They compare normal Phox2b with CCHS-like mutations to find which genes those neurons need to drive breathing and arousal. The team measures breathing and wakefulness responses and maps how RTN neurons connect with other brain centers. Together, these steps aim to reveal biological targets that could guide future treatments or diagnostics.
Who could benefit from this research
Good fit: People with congenital central hypoventilation syndrome (CCHS) or families affected by unexplained infant sleep-related deaths (SIDS) would be most directly relevant to this work and to future related studies.
Not a fit: People whose breathing problems are caused primarily by lung disease, obstructive sleep apnea, neuromuscular disorders, or other non-brainstem causes are less likely to benefit from findings focused on Phox2b/RTN neurons.
Why it matters
Potential benefit: If successful, this work could identify genes and pathways to guide new diagnostics or therapies for CCHS and related breathing–arousal disorders.
How similar studies have performed: Previous mouse genetic studies have shown Phox2b mutations disrupt RTN development and breathing, so this builds on established animal models while applying newer viral and genomic tools to study postnatal gene function.
Where this research is happening
Charlottesville, United States
- University of Virginia — Charlottesville, United States (Active)
Researchers
- Principal investigator: Bayliss, Douglas a. — University of Virginia
- Study coordinator: Bayliss, Douglas a.
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.