Understanding how DNA repair failures affect genetic variations
Factors Shaping the Genomic Spectrum of Structural Variants
This study is looking at how our cells fix broken DNA and what happens when those repairs go wrong, which can affect people with cancer, genetic disorders, or infertility, to help understand how these issues might influence treatment responses.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Broad Institute, INC. NIH-funded |
| Lab location | 1 site (Cambridge, United States) |
| Project ID | NIH-10949909 on NIH RePORTER |
What this research studies
This research investigates the mechanisms behind double-strand break (DSB) repair in DNA, which is crucial for maintaining genetic integrity. By examining how errors in this repair process lead to structural variants in the genome, the study aims to uncover the factors that influence these outcomes. Using advanced computational techniques and experiments with yeast and human cells, the research will explore the role of imperfect genetic sequences in DSB repair and how these might predict responses to cancer treatments. Patients with congenital diseases, cancer, or infertility may find this research particularly relevant.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with congenital diseases, cancer, or infertility related to DNA repair mechanisms.
Not a fit: Patients without genetic disorders or those not affected by DNA repair issues may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment strategies for genetic disorders and cancers linked to DNA repair failures.
How similar studies have performed: Previous research has shown promising results in understanding DNA repair mechanisms, suggesting that this approach could yield valuable insights.
Where this research is happening
Cambridge, United States
- Broad Institute, INC. — Cambridge, United States (Active)
Researchers
- Principal investigator: Dalin, Simona — Broad Institute, INC.
- Study coordinator: Dalin, Simona
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.