Investigating how genetic mutations in a specific transcription factor affect autoimmune diseases.
Role of the bHLH Transcription Factor ASCL1 in Central Tolerance
This study is looking at how certain genetic changes in a specific protein might cause autoimmune diseases like Addison's disease, and it's for people and families who think their autoimmune issues might be linked to genetics.
Quick facts
| Grant type | R21 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-11115756 on NIH RePORTER |
What this research studies
This research aims to explore the role of genetic mutations in the ASCL1 transcription factor and how these mutations may lead to organ-specific autoimmune diseases, such as Addison's disease. By studying individuals and families with suspected genetic forms of autoimmunity, the research will analyze how misregulation of gene expression contributes to these conditions. The methodology includes examining genetic samples and utilizing advanced sequencing techniques to identify mutations and their effects on immune function. This could provide insights into the underlying mechanisms of autoimmune diseases and potential new therapeutic targets.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with a family history of autoimmune conditions or those diagnosed with organ-specific autoimmune diseases.
Not a fit: Patients without a genetic predisposition to autoimmune diseases or those with unrelated health conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for patients with autoimmune diseases.
How similar studies have performed: Previous research has shown success in identifying genetic factors contributing to autoimmune diseases, indicating that this approach may yield valuable insights.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: German, Michael S — University of California, San Francisco
- Study coordinator: German, Michael 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.