Understanding STAT3-driven early-onset autoimmune disease
Project-003
['FUNDING_P01'] · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · NIH-11261115
This project uses CRISPR gene-editing and samples from people with STAT3 gain-of-function mutations to learn how their T cells cause early-onset autoimmune disease and to explore ways to correct those defects.
Quick facts
| Phase | ['FUNDING_P01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN FRANCISCO (nih funded) |
| Locations | 1 site (SAN FRANCISCO, UNITED STATES) |
| Trial ID | NIH-11261115 on ClinicalTrials.gov |
What this research studies
From a patient perspective, researchers will collect immune cells from people with STAT3 gain-of-function mutations and study those cells alongside mouse models and cultured T cells. They will use CRISPR-Cas9 functional genomics and targeted knockout screens to identify which genes change T cell behavior in the presence of STAT3 mutations. The team will also attempt to correct mutations in primary human and mouse cells to see whether normal T cell function can be restored. The work combines patient-derived data, mechanistic mouse experiments, and genomic screens to point toward possible therapy targets.
Who could benefit from this research
Good fit: Ideal candidates are people diagnosed with STAT3 gain-of-function mutations or patients with early-onset multi-organ autoimmunity who can provide blood samples and medical records.
Not a fit: People whose autoimmune disease is caused by other genes or who cannot provide samples or travel to study sites are unlikely to gain direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could identify targets or gene-correction approaches that lead to treatments less invasive than allogeneic stem cell transplant for STAT3 GOF patients.
How similar studies have performed: CRISPR functional-genomics and gene-editing approaches have revealed immune mechanisms and produced therapies in some genetic disorders, but applying these methods specifically to STAT3 gain-of-function is still relatively new.
Where this research is happening
SAN FRANCISCO, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN FRANCISCO — SAN FRANCISCO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ANDERSON, MARK S — UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- Study coordinator: ANDERSON, MARK S
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: Autoimmune Diseases