Identifying genetic causes of immune system disorders
Official title: Somatic variants as drivers of genetic errors of immunity
Funded at Washington University · NIH-11010138 · Data updated 2026-11-12
This study is looking to help people with inborn errors of immunity by finding hidden genetic changes that might be causing their condition, so they can get a clearer diagnosis and better treatment options.
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 start | April 8, 2025 |
| Project end | March 31, 2030 |
| Funding year | 2025 |
| Award (this year) | $413,985 |
| NIH project number | 1P01AI186771-01 |
| Project ID | NIH-11010138 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are patients with suspected inborn errors of immunity who have not yet received a molecular diagnosis.
✕Less likely to help
Patients with well-defined genetic causes of immune disorders that have already been diagnosed may not benefit from this research.
What this research studies
This research focuses on improving the diagnosis of inborn errors of immunity (IEI) by detecting and validating mosaic genetic variants in patients who may have these conditions. Currently, many patients with suspected IEI do not receive a molecular diagnosis due to limitations in standard genomic testing methods. The project aims to enhance diagnostic accuracy by exploring somatic mutations that can lead to immune dysregulation, which are often overlooked in traditional sequencing approaches. By identifying these genetic variants, the research seeks to provide better guidance for clinical monitoring and targeted therapies for affected patients.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and improved treatment options for patients with immune system disorders.
How similar studies have gone: Previous research has shown promise in identifying somatic mutations in other genetic conditions, suggesting potential success for this novel approach in diagnosing immune disorders.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Cooper, Megan Anne — Washington University
- Study coordinator: Cooper, Megan Anne
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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.