How changes in immune cell signaling can lead to diabetes and autoimmune diseases
Alterations of leukocyte integrin signaling leading to diabetes and autoimmunity
This study is looking at how certain genetic changes, especially in the SKAP2 gene, might lead to type 1 diabetes, and it's for people with T1D who have specific genetic traits to help us understand why their immune system isn't working properly.
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-10891510 on NIH RePORTER |
What this research studies
This research investigates the genetic factors that contribute to type 1 diabetes (T1D) by examining rare cases of individuals with specific genetic mutations. The study focuses on the SKAP2 gene, which plays a crucial role in immune cell signaling and adhesion. By using advanced techniques like whole exome sequencing, researchers aim to understand how mutations in this gene can lead to T1D and associated autoimmune conditions. Patients with T1D and specific genetic profiles will be analyzed to uncover the underlying mechanisms of immune tolerance failure.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with type 1 diabetes, particularly those with a family history of autoimmune diseases or specific genetic mutations.
Not a fit: Patients without type 1 diabetes or those who do not have a genetic predisposition to autoimmune conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights into the genetic causes of type 1 diabetes and potential therapeutic targets for treatment.
How similar studies have performed: Previous research has shown promising results in understanding genetic factors related to type 1 diabetes, indicating that this approach has potential for success.
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.