Understanding how chromothripsis affects cancer development
Official title: Dissecting the role of the Fanconi anemia pathway in chromothripsis
Funded at Ut Southwestern Medical Center · NIH-10996542 · Data updated 2026-11-12
This study is looking into how certain genetic changes happen in cancer, specifically focusing on a process called chromothripsis, and it aims to help patients understand more about how their cancer develops and find new ways to treat it.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | July 1, 2024 |
| Project end | June 30, 2027 |
| Funding year | 2024 |
| Award (this year) | $39,786 |
| NIH project number | 1F31CA295091-01 |
| Project ID | NIH-10996542 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with cancers that exhibit chromosomal abnormalities, particularly those with a history of genomic instability.
✕Less likely to help
Patients with non-cancerous conditions or those whose cancers do not involve chromothripsis may not benefit from this research.
What this research studies
This research investigates the phenomenon of chromothripsis, where chromosomes shatter and reassemble, leading to genetic abnormalities in cancer. The study focuses on the role of the Fanconi anemia pathway in this process, exploring how errors during cell division can create micronuclei that trap mis-segregated chromosomes. By examining the mechanisms behind these chromosomal rearrangements, the research aims to uncover new insights into cancer biology and potential therapeutic targets. Patients may benefit from a deeper understanding of how their cancer develops at a genetic level.
Why it matters
Potential benefit: If successful, this research could lead to new strategies for diagnosing and treating cancers associated with chromothripsis.
How similar studies have gone: Previous research has shown promising results in understanding chromosomal abnormalities in cancer, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Engel, Justin — Ut Southwestern Medical Center
- Study coordinator: Engel, Justin
Related research
Other NIH-funded projects on the same topics.
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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.
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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.
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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.
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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.
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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.
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Fanconi anemia: what happens inside cells
Researchers want to learn how proteins called REV7 and CHAMP1 change DNA repair in people with Fanconi anemia and related genetic syndromes.
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.