Understanding how DNA changes lead to genetic disorders and childhood cancers
Official title: Investigating the Function of Highly Similar Intrachromosomal Repeats to Genomic Instability and Perturbed Gene Expression in Genetic Disorder
Funded at Pacific Northwest Research Institute · NIH-11159803 · Data updated 2026-11-12
This research explores how certain repetitive DNA segments contribute to genetic changes that cause conditions like birth defects and childhood cancers.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Pacific Northwest Research Institute NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $598,205 |
| NIH project number | 5R01GM152556-02 |
| Project ID | NIH-11159803 on NIH RePORTER |
Who could benefit from this research
✓Could help
This foundational research is relevant to patients with pediatric and neurodevelopmental diseases or childhood cancers linked to genetic changes.
✕Less likely to help
Patients whose conditions are not related to copy-number variants or structural variations in their DNA may not directly benefit from this specific research.
What this research studies
Our bodies' DNA can sometimes have extra or missing pieces, called copy-number variants (CNVs), which are often linked to genetic conditions in children and problems with brain development. This project looks at how these changes happen, focusing on specific DNA repair processes that can make mistakes. We are particularly interested in how highly similar repetitive sections of DNA might make these errors more likely, leading to complex genetic rearrangements. By understanding these processes, we hope to uncover the root causes of many genetic syndromes and cancers.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of the causes of many genetic disorders and childhood cancers, potentially guiding future diagnostic tools or treatments.
How similar studies have gone: Previous studies have shown that DNA repair mechanisms contribute to genetic changes in both genomic disorders and cancer, building a foundation for this work.
Where this research is happening
-
Pacific Northwest Research Institute
Seattle, United States Active
Researchers
- Principal investigator: Fonseca, Claudia Carvalho — Pacific Northwest Research Institute
- Study coordinator: Fonseca, Claudia Carvalho
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.