Understanding genetic causes of autoinflammatory disorders in children
Inborn Errors of Immunity Leading to Autoinflammatory Syndromes
This study is looking at rare genetic changes that can cause autoinflammatory syndromes in kids, which lead to problems with their immune system and cause serious skin and stomach issues, with the hope of finding new treatments to help them feel better.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11077573 on NIH RePORTER |
What this research studies
This research investigates rare genetic mutations that lead to autoinflammatory syndromes in children, focusing on how these mutations affect the immune system and cause severe skin and gastrointestinal inflammation. By utilizing whole exome sequencing, the study aims to identify specific genetic variations that disrupt normal immune responses. The research will explore the underlying mechanisms of these disorders, particularly how overactive immune signaling can lead to harmful health effects. This work could provide insights into potential new treatments for affected patients.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under 11 years old who exhibit symptoms of severe skin inflammation and gastrointestinal issues linked to genetic immune disorders.
Not a fit: Patients with autoinflammatory conditions not linked to genetic mutations or those over the age of 11 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for children suffering from autoinflammatory syndromes.
How similar studies have performed: Previous research has shown success in identifying genetic causes of similar autoinflammatory disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Bogunovic, Dusan — Columbia University Health Sciences
- Study coordinator: Bogunovic, Dusan
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.