How single-copy gene activity may drive inherited immune disorders
Monoallelically expressed genes as a novel mechanism of genetic errors of immunity
Researchers will look at how some genes that are active from only one inherited copy can change the severity of inherited immune system disorders.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project ID | NIH-11316967 on NIH RePORTER |
What this research studies
This project studies genes that are sometimes turned on from only one parent's copy instead of both copies and how that affects immune cells. Scientists will analyze genetic and epigenetic marks, study patient-derived blood cells, and perform lab-based cell experiments to map which immune genes show single-copy activity. They will compare samples from people with inherited immune disorders to those without to see if single-copy expression explains why symptoms differ between patients. Results are intended to help clinicians understand variable disease courses and point toward better diagnostics or personalized care.
Who could benefit from this research
Good fit: Ideal participants are people (including children) with known inherited immune disorders or families with unexplained variable immune symptoms who can provide medical history and blood samples.
Not a fit: People without genetic immune conditions or those seeking immediate treatment changes are unlikely to receive direct medical benefit from participation.
Why it matters
Potential benefit: If successful, this work could explain why people with the same mutation have different disease severity and support more precise diagnosis or tailored treatments.
How similar studies have performed: Prior laboratory studies have shown random monoallelic expression exists and can affect gene function, but applying this idea to explain variability in immune genetic diseases is relatively new and exploratory.
Where this research is happening
Saint Louis, United States
- Washington University — Saint Louis, United States (Active)
Researchers
- Principal investigator: Bogunovic, Dusan — Washington University
- Study coordinator: Bogunovic, Dusan
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.