How 22q11 genes shape brain development and adult brain connections
Regulation of 22q11 Genes in Embryonic and Adult Forebrain
This project looks at how losing 22q11 genes changes specific brain cells and their wiring, which may underlie conditions like autism and other neurodevelopmental disorders.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Virginia Polytechnic Inst and St Univ NIH-funded |
| Lab location | 1 site (Blacksburg, United States) |
| Project ID | NIH-11135477 on NIH RePORTER |
What this research studies
The researchers use mouse models that carry the same 22q11.2 deletion found in people to follow how certain neurons called layer 2/3 projection neurons grow and connect across the forebrain. They examine cell growth, the balance of excitatory and inhibitory synapses, mitochondrial oxidative stress, and changes in gene and protein activity. The team combines genetic manipulation, electrophysiology, transcriptomics, proteomics, and behavioral testing from development into adulthood. The aim is to explain why circuit disconnection and variable behaviors occur in 22q11.2 deletion syndrome.
Who could benefit from this research
Good fit: People with a confirmed 22q11.2 deletion, especially those experiencing autism, anxiety, or cognitive difficulties, would be most relevant for related clinical follow-up or future trials.
Not a fit: People without a 22q11.2 deletion or whose symptoms come from unrelated causes are unlikely to receive direct benefit from this basic research.
Why it matters
Potential benefit: If successful, this work could reveal cellular and molecular targets to prevent or treat brain-circuit problems in people with 22q11.2 deletion syndrome.
How similar studies have performed: Previous mouse studies of 22q11DS have shown impaired neuron growth and mitochondrial stress, supporting this line of work, but translating findings into human treatments remains early.
Where this research is happening
Blacksburg, United States
- Virginia Polytechnic Inst and St Univ — Blacksburg, United States (Active)
Researchers
- Principal investigator: Lamantia, Anthony S — Virginia Polytechnic Inst and St Univ
- Study coordinator: Lamantia, Anthony 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.