Investigating how certain genetic variations affect mitochondrial function in brain development.
Official title: Phenotypic convergence at mitochondria in copy number variant disorders
Funded at Emory University · NIH-10888383 · Data updated 2026-11-12
This study is looking at how certain genetic changes might affect brain function in people with schizophrenia, and it aims to help us understand these changes better so we can find new ways to improve treatment for those living with this condition.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project start | August 1, 2023 |
| Project end | July 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $143,416 |
| NIH project number | 5K01MH133970-02 |
| Project ID | NIH-10888383 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with known copy number variants associated with schizophrenia, such as those with 3q29 or 22q11.2 deletions.
✕Less likely to help
Patients without these specific genetic variations or those not affected by schizophrenia may not benefit from this research.
What this research studies
This research explores the impact of specific genetic variations, known as copy number variants (CNVs), on mitochondrial function in the brain, particularly in relation to schizophrenia. By utilizing human induced pluripotent stem cell lines and mouse models, the study aims to determine whether these genetic changes disrupt common neurobiological pathways. Patients may benefit from insights into how these genetic factors contribute to mental health conditions, potentially leading to improved treatment strategies. The research focuses on understanding the biological mechanisms that underlie the increased risk of schizophrenia associated with these CNVs.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for individuals at high risk for schizophrenia.
How similar studies have gone: Previous research has shown promising results in understanding the role of mitochondrial function in neurodevelopmental disorders, suggesting that this approach may yield valuable insights.
Where this research is happening
-
Emory University
Atlanta, United States Active
Researchers
- Principal investigator: Purcell, Ryan Herndon — Emory University
- Study coordinator: Purcell, Ryan Herndon
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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.