Acquired gene changes that can cause immune system disorders
Somatic variants as drivers of genetic errors of immunity
['FUNDING_P01'] · WASHINGTON UNIVERSITY · NIH-11316969
This project looks for small, acquired (somatic) genetic changes that can cause immune problems in people with suspected genetic immune disorders.
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-11316969 on ClinicalTrials.gov |
What this research studies
If you take part, researchers will use very deep DNA sequencing and advanced computer analysis to find genetic changes present in only a fraction of your blood or immune cells that standard tests can miss. They will confirm any findings by testing immune cells and comparing genetic results with your symptoms and medical history. The team will refine lab and informatics methods so they can reliably detect and validate mosaic variants. The goal is to explain previously undiagnosed immune problems and point toward better monitoring or targeted treatments.
Who could benefit from this research
Good fit: People with suspected inborn errors of immunity or unexplained immune dysregulation—especially those whose prior genetic testing was unrevealing—are the best candidates.
Not a fit: Patients whose conditions are clearly non-genetic or who already have an identified causative germline mutation are less likely to benefit from this project.
Why it matters
Potential benefit: If successful, this work could provide a genetic diagnosis for many people who currently lack one and help guide monitoring or targeted therapies.
How similar studies have performed: Related deep-sequencing and mosaicism-detection efforts have already identified disease-causing somatic variants in some immune disorders, but broader clinical adoption is still developing.
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.
Conditions: Canale-Smith Syndrome