Understanding genetic factors in autoimmune diseases
Official title: Mechanisms of genetic variants in TH2 autoimmunity
Funded at Mayo Clinic Rochester · NIH-11133014 · Data updated 2026-11-12
This study is looking at the genes that might cause a rare autoimmune disease called IgG4-related disease, hoping to find out how certain gene changes can lead to symptoms like inflammation and allergies, which could help patients understand their condition better and explore new treatment options.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Mayo Clinic Rochester NIH-funded |
| Lab location | 1 site (Rochester, United States) |
| Project start | July 5, 2024 |
| Project end | May 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $606,229 |
| NIH project number | 5R01AI184360-02 |
| Project ID | NIH-11133014 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with monogenic autoimmune diseases, particularly those with a family history of conditions like IgG4-RD.
✕Less likely to help
Patients with common autoimmune diseases that do not have a genetic basis or those without a family history of autoimmune conditions may not benefit from this research.
What this research studies
This research investigates the genetic mechanisms behind monogenic autoimmune diseases, particularly focusing on a family with Immunoglobulin G4-related disease (IgG4-RD). By using advanced techniques like exome sequencing, the study aims to identify specific mutations in genes such as UBR4 and IKZF1 that contribute to the disease. The research seeks to understand how these genetic variants affect immune responses and lead to symptoms like inflammation and allergies. Patients may benefit from insights into their conditions and potential new treatment strategies based on genetic findings.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and management of autoimmune diseases, potentially improving treatment options for affected patients.
How similar studies have gone: Previous research has shown success in understanding genetic factors in autoimmune diseases, making this approach promising and not entirely novel.
Where this research is happening
-
Mayo Clinic Rochester
Rochester, United States Active
Researchers
- Principal investigator: Goronzy, Jorg J — Mayo Clinic Rochester
- Study coordinator: Goronzy, Jorg J
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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.