New genetic causes of immune disorders
Novel Mechanisms of Genetic Errors of Immunity
['FUNDING_P01'] · WASHINGTON UNIVERSITY · NIH-11316961
Researchers will look for hidden genetic and epigenetic changes that could explain immune disorders in people with inherited or unexplained immune problems.
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-11316961 on ClinicalTrials.gov |
What this research studies
If you have an inherited immune problem or unexplained autoimmune, inflammatory, or allergy symptoms, this team will ask for clinical information and blood or tissue samples and use genetic and epigenetic tests to look for causes. They will map which immune genes express only one copy in certain cell types, search for mutations that appear after birth in some cells, and look for other genes that change how severe disease becomes. The project combines DNA/RNA sequencing, epigenomic profiling, and cell-specific analyses across multiple labs to better find difficult-to-detect causes. Results may help clarify why some family members get sick while others do not.
Who could benefit from this research
Good fit: Ideal candidates are people with suspected inborn errors of immunity, primary immune regulation disorders, or families with unexplained recurrent infections, autoimmunity, lymphoproliferation, inflammation, or severe atopy.
Not a fit: People with immune problems known to have non-genetic causes or with an established genetic diagnosis unlikely to be explained by the mechanisms studied may not benefit directly.
Why it matters
Potential benefit: If successful, this work could improve genetic diagnosis and point toward more personalized guidance or treatments for people with unexplained immune dysregulation.
How similar studies have performed: Prior genetic sequencing studies have raised diagnosis rates for inherited immune disorders, but combining epigenetic monoallelic expression mapping with searches for somatic mutations and modifiers is a newer approach with limited prior clinical success.
Where this research is happening
SAINT LOUIS, UNITED STATES
- WASHINGTON UNIVERSITY — SAINT LOUIS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: COOPER, MEGAN ANNE — WASHINGTON UNIVERSITY
- Study coordinator: COOPER, MEGAN ANNE
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.