Understanding energy production issues in human cells related to genetic variations.
Official title: Biochemical and Physiological Phenotypes of CV Dysfunction In Human Cell Models
Funded at Children's Hosp of Philadelphia · NIH-11164799 · Data updated 2026-11-12
This study is looking at how differences in a specific gene that helps produce energy in our cells might affect health, especially for people at risk of serious conditions like strokes and heart problems, to find better ways to understand and manage these issues.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | July 15, 2023 |
| Project end | April 30, 2028 |
| Funding year | 2025 |
| Award (this year) | $445,000 |
| NIH project number | 5R35GM151098-03 |
| Project ID | NIH-11164799 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with known genetic variants affecting Complex V function, particularly those experiencing symptoms related to energy metabolism disorders.
✕Less likely to help
Patients without genetic variations affecting Complex V or those with unrelated health conditions may not benefit from this research.
What this research studies
This research investigates how genetic variations in a key enzyme involved in energy production, known as Complex V or ATP synthase, affect cellular function. By using human cell models, the researchers aim to develop a biochemical method to evaluate the function of this enzyme and its impact on various diseases. The study focuses on understanding how deficiencies in this enzyme can lead to serious health issues, including strokes and cardiomyopathy, by assessing ATP synthesis rates in cells with different genetic variants. This approach could help clarify the clinical significance of these genetic variations and improve patient management.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools and treatment strategies for patients with energy production disorders linked to genetic variations.
How similar studies have gone: Previous research has shown promise in understanding energy production issues through similar biochemical approaches, indicating potential for success in this area.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Ganetzky, Rebecca — Children's Hosp of Philadelphia
- Study coordinator: Ganetzky, Rebecca
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.