Finding the genes that cause obstructive sleep apnea and excessive sleepiness
Going from Genetic Associations to Identification of Causative Genes
This project uses human genetic data and lab models to pinpoint which genes lead to obstructive sleep apnea and daytime sleepiness so future care can be improved for people with these conditions.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11184389 on NIH RePORTER |
What this research studies
From a patient perspective, researchers start with large genetic studies that found spots in the genome linked to sleep apnea and sleepiness and then use 3D genomics methods to connect those spots to specific genes. They will look at DNA activity in relevant cell types like fat cells, bone-related cells, neurons, and brain support cells to see which genomic regions touch active gene controls. The team then tests the most likely genes and variants in cell and animal models to see whether and how they change breathing during sleep or daytime alertness. Overall, the work combines computer-based mapping, lab experiments, and animal follow-up to move from genetic hints to genes that actually cause sleep problems.
Who could benefit from this research
Good fit: People with obstructive sleep apnea or chronic excessive daytime sleepiness, or those willing to donate genetic samples or clinical data for research, would be most relevant to this effort.
Not a fit: People without sleep-disordered breathing or those seeking immediate new treatments are unlikely to get direct clinical benefit from this basic and preclinical research.
Why it matters
Potential benefit: If successful, this work could reveal specific genes behind sleep apnea and excessive sleepiness, helping to guide new diagnostic tests or targeted treatments.
How similar studies have performed: Previous genetic studies have identified regions linked to sleep traits and some genes, but combining 3D genomics with follow-up in cells and animals for these sleep conditions is relatively new.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Pack, Allan I — University of Pennsylvania
- Study coordinator: Pack, Allan I
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.