Fanconi anemia: what happens inside cells
Molecular Pathogenesis of Fanconi Anemia
Researchers want to learn how proteins called REV7 and CHAMP1 change DNA repair in people with Fanconi anemia and related genetic syndromes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Dana-Farber Cancer Inst NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11257267 on NIH RePORTER |
What this research studies
If you or a family member have Fanconi anemia or a CHAMP1-related syndrome, this project looks at how specific proteins control DNA repair inside cells. The team studies how REV7 and its partner CHAMP1 interact, how those interactions affect homologous recombination and other DNA-repair pathways, and how patient-derived CHAMP1 mutations change cell behavior. They use patient cells and molecular lab tests to see how these changes affect chromosome stability, telomeres, and sensitivity to DNA-damaging drugs. The work aims to link specific genetic changes to cellular defects that could point to better diagnosis or treatment options in the future.
Who could benefit from this research
Good fit: Ideal candidates would be people with a clinical diagnosis of Fanconi anemia or individuals known to have CHAMP1 mutations or related syndromic features who can provide clinical information or blood samples.
Not a fit: People without Fanconi anemia, CHAMP1-related syndromes, or relevant genetic changes are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could reveal why some patients have Fanconi-like symptoms and point to targeted drugs or better genetic counseling.
How similar studies have performed: Laboratory studies have recently shown that CHAMP1 affects REV7-dependent DNA repair and that patient-derived CHAMP1 mutations disrupt repair and alter drug sensitivity, but clinical translation remains limited.
Where this research is happening
Boston, United States
- Dana-Farber Cancer Inst — Boston, United States (Active)
Researchers
- Principal investigator: D'andrea, Alan D. — Dana-Farber Cancer Inst
- Study coordinator: D'andrea, Alan D.
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.