Fanconi anemia: what happens inside cells
Official title: Molecular Pathogenesis of Fanconi Anemia
Funded at Dana-Farber Cancer Inst · NIH-11257267 · Data updated 2026-11-12
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 start | August 1, 1994 |
| Project end | December 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $445,000 |
| NIH project number | 5R01HL052725-31 |
| Project ID | NIH-11257267 on NIH RePORTER |
Who could benefit from this research
✓Could help
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.
✕Less likely to help
People without Fanconi anemia, CHAMP1-related syndromes, or relevant genetic changes are unlikely to benefit directly from this project.
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.
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 gone: 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
-
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.
Related research
Other NIH-funded projects on the same topics.
-
In vivo gene repair to restore healthy hematopoiesis in Fanconi anemia
A study aims to repair faulty genes inside patients’ blood-forming cells to help people with Fanconi anemia regain healthy blood cell production.
-
Understanding genetic dependencies when Fanconi anemia pathway is lost
A study to find other genes or pathways that cancer cells rely on when the Fanconi anemia repair system is broken, with the aim of guiding future treatments.
-
Innovative cell and gene therapy approaches to treat Fanconi anemia
A Stanford-led project aims to develop safer cell and gene therapies to help people with Fanconi anemia who have bone marrow failure.
-
How cells detect DNA damage and activate ATR, ATM, and Fanconi anemia repair systems
Researchers are using high-resolution structural imaging to show how key repair proteins sense DNA damage, with relevance for people whose cancers come from DNA repair defects.
-
In vivo gene therapy for Fanconi anemia
A patient-focused overview of a potential in vivo gene therapy approach to correct Fanconi anemia, aiming to reduce the need for donor transplants.
-
Understanding how cells detect and respond to DNA damage
This study is looking at how our cells detect and fix damage to their DNA, which is really important for stopping cancer, and it aims to understand how certain proteins work together to repair serious DNA problems, with the hope that this knowledge can help develop new treatments to improve DNA repair in cancer cells.
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.