Understanding hidden structural variants that drive rare genetic diseases and cancer
Official title: Investigating the origin and functional impact of "hidden" structural variants in rare genetic diseases
Funded at Pacific Northwest Research Institute · NIH-11260825 · Data updated 2026-11-12
This grant studies hidden DNA changes that can cause rare diseases and cancer, aiming to uncover how these variants form and affect patients.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Pacific Northwest Research Institute NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | August 1, 2026 |
| Project end | May 31, 2031 |
| Funding year | 2026 |
| Award (this year) | $1,231,446 |
| NIH project number | 1R35GM161728-01 |
| Project ID | NIH-11260825 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with congenital anomalies, genetic disorders, or cancers in which structural variants are suspected to play a role may benefit.
✕Less likely to help
Individuals without conditions linked to structural variants or without access to advanced genomic testing may not directly benefit.
What this research studies
Researchers will map and analyze structural variants in the genome, including copy-number changes and rearrangements, to understand their formation and impact on disease. The project will use advanced sequencing to detect variants that are often missed by standard tests and link them to clinical traits and cancer biology. By exploring DNA repair and replication processes that create these variants, the study hopes to reveal new mechanisms behind genomic disorders and tumor development. Outcomes could inform better diagnosis and pave the way for targeted therapies or risk assessment for affected individuals.
Why it matters
Potential benefit: Better understanding of hidden genetic changes could improve diagnosis and inform future treatments for patients with genomic disorders and cancer.
How similar studies have gone: Prior work suggests that detailed mapping of structural variants can reveal clinically relevant mechanisms, though many SV classes remain challenging to detect and interpret.
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
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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.