Brain–immune interactions in 22q11.2 deletion syndrome
Role of the brain-immune axis in neuropsychiatric disease
This project looks at how immune signals and the brain's blood vessels influence mood and behavior in people with 22q11.2 deletion syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11233243 on NIH RePORTER |
What this research studies
From a patient perspective, researchers are using a mouse model that carries the same 22q11.2 genetic deletion seen in people to study how the blood-brain barrier and immune molecules like IL-6 and IL-1β affect the brain and behavior. They will mimic an environmental “second hit” to see how genetics plus outside stressors change brain-immune communication and behavior. Laboratory tests of brain vasculature, immune signaling, and behavior in the model will be combined with knowledge about the human 22q11.2 condition to link findings back to patients. The goal is to pinpoint mechanisms that could be targeted to prevent or lessen psychiatric symptoms associated with 22q11.2DS.
Who could benefit from this research
Good fit: People diagnosed with 22q11.2 deletion syndrome—particularly adolescents and adults concerned about emerging psychiatric symptoms—would be the most directly relevant group for this research.
Not a fit: People without the 22q11.2 deletion or whose psychiatric symptoms have no immune or blood-brain barrier component may not directly benefit from the findings.
Why it matters
Potential benefit: If successful, this work could point to immune-based treatments or strategies to protect the blood-brain barrier that might prevent or reduce psychiatric symptoms in people with 22q11.2 deletion syndrome.
How similar studies have performed: Other research has linked immune molecules and blood-brain barrier problems to autism and schizophrenia and prior work by this group showed BBB compromise in 22q11.2 models, but translating these findings into treatments is still an emerging area.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Alvarez, Jorge Ivan — University of Pennsylvania
- Study coordinator: Alvarez, Jorge Ivan
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.