Why inherited immune conditions cause different symptoms
Polygenic contributors to disease expressivity in genetic errors of immunity
['FUNDING_P01'] · WASHINGTON UNIVERSITY · NIH-11316971
Researchers will look at common genetic differences to help explain why people with inherited immune disorders have milder or more severe symptoms.
Quick facts
| Phase | ['FUNDING_P01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | WASHINGTON UNIVERSITY (nih funded) |
| Locations | 1 site (SAINT LOUIS, UNITED STATES) |
| Trial ID | NIH-11316971 on ClinicalTrials.gov |
What this research studies
If you join, researchers will combine your genetic data and medical records to compare overall genetic risk and regulatory DNA variants with your symptoms. They will create polygenic risk scores and examine pathway-specific variants to see how common genetic factors change disease severity and symptom patterns. Lab tests and immune-function measures will be linked to your genetics to identify biological pathways that drive worse outcomes. The goal is to find genetic signatures that could help your doctors predict who is at higher risk and tailor treatment earlier.
Who could benefit from this research
Good fit: People with a confirmed or suspected monogenic inborn error of immunity (a genetic immune disorder) would be the main candidates for participation.
Not a fit: People whose immune problems are not caused by identifiable genetic mutations or who do not want genetic testing are unlikely to benefit directly.
Why it matters
Potential benefit: If successful, this work could help predict who with an inherited immune disorder will develop severe disease and allow earlier, targeted treatment.
How similar studies have performed: Polygenic risk scores have shown promise in other conditions, but applying them to monogenic immune disorders is a relatively new approach.
Where this research is happening
SAINT LOUIS, UNITED STATES
- WASHINGTON UNIVERSITY — SAINT LOUIS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MILNER, JOSHUA D. — WASHINGTON UNIVERSITY
- Study coordinator: MILNER, JOSHUA D.
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.