Regulation of 22q11 Genes in Brain Development and Function
Official title: Regulation of 22q11 Genes in Embryonic and Adult Forebrain
Funded at Virginia Polytechnic Inst and St Univ · NIH-11387705 · Data updated 2026-11-12
A study in mouse models of 22q11.2 deletion looks at how brain circuits develop and function, with potential relevance to people with 22q11.2 Deletion Syndrome.
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 start | April 1, 2003 |
| Project end | June 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $667,837 |
| NIH project number | 5R01HD042182-22 |
| Project ID | NIH-11387705 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates would be individuals with 22q11.2 deletion syndrome or related neurodevelopmental disorders who may benefit from improved understanding of brain circuitry and potential future interventions.
✕Less likely to help
People without 22q11.2 deletion or related neurodevelopmental conditions are unlikely to directly benefit from this basic mechanistic study.
What this research studies
This project uses mouse models of 22q11.2 deletion to understand how layer 2/3 neurons in the cortex form long-range connections and how mitochondria-related stress may affect them. Researchers will combine genetics, physiology, and molecular profiling with behavioral tests to map how 22q11 deletion changes neuron identity and circuit wiring. The goal is to link cellular and synaptic changes to altered brain circuits that may contribute to neurodevelopmental disorders seen in 22q11.2DS. The work aims to uncover mechanisms behind excitatory/inhibitory balance and connectivity in association cortico-cortical circuits. Findings could inform future strategies to mitigate circuit dysfunction in affected individuals.
Why it matters
Potential benefit: If successful, the research could lead to better understanding of brain circuit vulnerabilities in 22q11.2DS and point toward therapeutic targets to improve circuit function.
How similar studies have gone: Previous work in mouse models and human studies of 22q11.2DS has shown circuit and synaptic alterations, supporting the legitimacy of exploring these mechanisms further.
Where this research is happening
-
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
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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.