Metabolic changes in developing brain cells in 22q11.2 deletion syndrome
Identification of metabolic alterations during cortical development in a human cellular model for 22q11.2 deletion syndrome
Researchers are comparing how energy use and mitochondria differ in developing human brain cells from people with the 22q11.2 deletion versus without it to learn how those changes may affect the cortex and risk for psychosis.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-11239754 on NIH RePORTER |
What this research studies
This project grows brain-like cells from human stem cells taken from people with and without the 22q11.2 deletion to watch how their metabolism and mitochondria change as the cortex develops. Scientists will look at early neural progenitors and later neurons for mitochondrial maturation, shifts toward glycolysis, calcium signaling, and electrical activity, and will compare those results to a mouse model. The goal is to find when metabolic changes begin and how they could lead to abnormal cortical circuits linked to higher psychosis risk. This is laboratory research using human-derived cells and tissue rather than a clinical treatment trial.
Who could benefit from this research
Good fit: People of any age with a confirmed 22q11.2 deletion who are willing to donate blood or tissue samples for research would be the ideal candidates to support this work.
Not a fit: People without a 22q11.2 deletion or whose medical issues are unrelated to cortical metabolic or mitochondrial dysfunction are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, the work could reveal metabolic targets or timing for interventions that might prevent or reduce cortical dysfunction and psychosis risk in people with 22q11.2 deletion.
How similar studies have performed: Prior lab studies using patient-derived cells and imaging have reported mitochondrial defects, increased glycolysis in blood, and neuronal hyperexcitability, but applying these findings to developing human cortex is a newer and partly untested step.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Pasca, Anca Mirabela — Stanford University
- Study coordinator: Pasca, Anca Mirabela
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.