How COPA gene changes cause the immune system to attack the lungs, joints, and kidneys
Unraveling the molecular mechanisms of impaired central tolerance in COPA syndrome
Researchers are looking at how mutations in the COPA gene make the immune system attack the lungs, joints, and kidneys in people with COPA syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-11262185 on NIH RePORTER |
What this research studies
Researchers use mice engineered with the same COPA mutation found in patients to recreate the lung, joint, and kidney inflammation seen in COPA syndrome. They perform bone marrow chimera and thymic transplant experiments and study T cells, autoantibodies, and interferon signaling to learn why the thymus fails to remove self-reactive immune cells. The team also examines blood cells from people with COPA syndrome to connect the mouse findings to human biology. The goal is to map the molecular steps that allow harmful immune cells to escape tolerance so future treatments can target those steps.
Who could benefit from this research
Good fit: Ideal participants would be people diagnosed with COPA syndrome or individuals with early-onset, lupus-like autoimmune disease willing to provide clinical information and blood samples.
Not a fit: People without COPA-related autoimmunity, or those expecting immediate new treatments, are unlikely to get direct clinical benefit from this basic research.
Why it matters
Potential benefit: If successful, this work could point to ways to prevent or reduce organ-damaging autoimmune attacks in people with COPA syndrome and related lupus-like diseases.
How similar studies have performed: Related mouse-model and thymus-transplant experiments have helped clarify mechanisms in other monogenic autoimmune disorders, but turning those insights into effective therapies has been limited so far.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Shum, Anthony — University of California, San Francisco
- Study coordinator: Shum, Anthony
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.