Brain immune cells in 22q11.2 deletion syndrome using patient stem cells

Leveraging human iPSC technology to understand the role of neuroinflammation in 22q11.2 deletion syndrome

NIH-funded research Emory University · NIH-11312579

This project uses stem cells made from people with 22q11.2 deletion syndrome to learn whether brain immune cells drive inflammation and psychiatric symptoms.

Quick facts

Grant typeR01 grant
Study typeNIH-funded research
Funding institutionEmory University NIH-funded
Lab location1 site (Atlanta, United States)
Project IDNIH-11312579 on NIH RePORTER

What this research studies

Researchers will collect cells from people with 22q11.2 deletion syndrome and convert them into induced pluripotent stem cells (iPSCs). They will grow those iPSCs into microglia, the brain's immune cells, and compare how these cells behave versus cells from people without the deletion. The team will look at inflammatory signals, how microglia prune synapses during adolescent-like stages, and links to changes associated with psychosis. Results may point to biological steps that could be targeted in future treatments.

Who could benefit from this research

Good fit: Ideal candidates are people with a confirmed 22q11.2 deletion who can provide a tissue sample (for example blood or a small skin biopsy) and agree to research use of their samples and data.

Not a fit: People without the 22q11.2 deletion or those who cannot or will not provide samples or clinical information are unlikely to gain direct benefit from this project.

Why it matters

Potential benefit: If successful, this work could reveal immune-related causes of psychiatric symptoms in 22qDS and point to new ways to prevent or reduce psychosis.

How similar studies have performed: Related studies using patient iPSCs to model brain cells have produced useful biological insights, but applying patient-derived microglia to explain 22qDS-related psychosis is relatively new and still experimental.

Where this research is happening

Atlanta, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions 22q11 Chromosomal Microdeletion Syndrome22q11 Deletion Syndrome22q11.2 deletion syndromeAutosomal dominant Opitz G/BBB syndrome
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.