Understanding metabolic changes in brain development related to 22q11.2 deletion syndrome
Identification of metabolic alterations during cortical development in a human cellular model for 22q11.2 deletion syndrome
This study is looking at how changes in metabolism might affect brain development in people with 22q11.2 deletion syndrome, which can increase the risk of mental health issues, and it aims to find ways to improve brain health for those affected.
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-10974480 on NIH RePORTER |
What this research studies
This research investigates how metabolic alterations affect brain development in individuals with 22q11.2 deletion syndrome, a condition linked to a higher risk of psychosis. By using human induced pluripotent stem cells to model the cerebral cortex, the study aims to uncover the cellular and molecular mechanisms behind these changes. Researchers will analyze mitochondrial function and metabolic reprogramming in neural progenitors to understand how these factors contribute to brain dysfunction. The findings could provide insights into potential therapeutic targets for improving brain health in affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with 22q11.2 deletion syndrome or those at risk due to family history.
Not a fit: Patients without a diagnosis of 22q11.2 deletion syndrome or related conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new strategies for preventing or treating brain dysfunction in patients with 22q11.2 deletion syndrome.
How similar studies have performed: Previous studies have shown promising results in understanding mitochondrial dysfunction in related conditions, suggesting that this approach may yield valuable insights.
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.