Investigating how mitochondrial genes affect brain cell growth in a genetic syndrome.
Official title: Mitochondrial mechanisms underlying neural stem and progenitor cell proliferation deficits in 22q11.2 deletion syndrome
Funded at University of Pennsylvania · NIH-11045599 · Data updated 2026-11-12
This study is looking at how certain genes related to energy production in cells affect brain development in people with 22q11.2 deletion syndrome, and it hopes to find new ways to help improve brain growth and function for those with this condition.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | March 1, 2024 |
| Project end | February 28, 2029 |
| Funding year | 2025 |
| Award (this year) | $231,255 |
| NIH project number | 5K08NS135125-02 |
| Project ID | NIH-11045599 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with 22q11.2 deletion syndrome, particularly those experiencing neurodevelopmental challenges.
✕Less likely to help
Patients without a diagnosis of 22q11.2 deletion syndrome or those with unrelated neurodevelopmental disorders may not benefit from this research.
What this research studies
This research focuses on understanding the role of mitochondrial genes in the proliferation of neural stem and progenitor cells in individuals with 22q11.2 deletion syndrome, a condition that can lead to various neurodevelopmental disorders. By using zebrafish models and cortical organoid studies, the researchers aim to identify the specific mechanisms through which these genes influence brain cell growth and overall brain size. The study will explore how deficiencies in these mitochondrial proteins may contribute to the challenges faced by individuals with this syndrome. Patients may benefit from insights gained into potential therapeutic targets for improving neurodevelopmental outcomes.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that enhance brain development and function in individuals with 22q11.2 deletion syndrome.
How similar studies have gone: Previous research has shown promising results in understanding the role of mitochondrial dysfunction in neurodevelopmental disorders, suggesting that this approach may yield valuable insights.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Campbell, Philip — University of Pennsylvania
- Study coordinator: Campbell, Philip
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.