Understanding how our bodies keep DNA healthy to prevent diseases like cancer
Mechanistic insight into genome stability pathways
This research explores how our cells protect their DNA to prevent problems that can lead to serious conditions like immunodeficiency, heart disease, or cancer.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Virginia NIH-funded |
| Lab location | 1 site (Charlottesville, United States) |
| Project ID | NIH-11086830 on NIH RePORTER |
What this research studies
Our bodies rely on a strong system to copy DNA correctly and fix any damage, which is crucial for preventing diseases. Sometimes, this system can get stressed when DNA is damaged or the copying machinery doesn't work right. This project looks closely at how these DNA problems arise and what happens when they do, especially focusing on rare genetic changes that can cause severe health issues. We are using special human cell models, including stem cells, to understand how these DNA errors affect different body tissues as they develop. This approach helps us learn more about conditions like immunodeficiency and cardiomyopathy without needing animal models.
Who could benefit from this research
Good fit: This foundational research focuses on understanding the basic mechanisms of disease, so it does not directly involve patient participation at this stage, but it is relevant to individuals with conditions linked to DNA replication stress, such as certain cancers, immunodeficiencies, or cardiomyopathies.
Not a fit: Patients seeking immediate clinical trials or direct treatment options would not find direct benefit from this basic science project.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of the root causes of certain cancers, immunodeficiencies, and heart conditions, potentially guiding the development of new treatments.
How similar studies have performed: This project builds upon a longstanding interest in replication stress and previous identification of patient mutations, suggesting it is an advancement in an established field of study.
Where this research is happening
Charlottesville, United States
- University of Virginia — Charlottesville, United States (Active)
Researchers
- Principal investigator: Bielinsky, Anja-Katrin — University of Virginia
- Study coordinator: Bielinsky, Anja-Katrin
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.