Investigating how genetic inversions in the human genome relate to diseases.
Official title: Uncovering inversion formation in the human genome and its impact to disease.
Funded at Pacific Northwest Research Institute · NIH-10832612 · Data updated 2026-11-12
This study is looking at how certain changes in our genes might be linked to birth defects and cancers, and it aims to help people with these conditions better understand what might be happening in their bodies.
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 | May 1, 2020 |
| Project end | April 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $675,744 |
| NIH project number | 5R01GM132589-06 |
| Project ID | NIH-10832612 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with congenital defects or malignancies that may be linked to genetic inversions.
✕Less likely to help
Patients without congenital anomalies or cancers are unlikely to benefit from this research.
What this research studies
This research explores the role of genetic inversions in the human genome and their association with various congenital anomalies and cancers. By examining the mechanisms behind these inversions, the study aims to uncover how they contribute to genomic structure and clinical outcomes. The research will utilize advanced genetic analysis techniques to identify the formation processes of these inversions and their impact on health. Patients with congenital defects or cancers may find this research particularly relevant as it seeks to enhance understanding of their conditions.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic tools and treatment strategies for patients with congenital anomalies and cancers.
How similar studies have gone: Previous research has shown that understanding genetic variations, including inversions, can significantly impact the diagnosis and treatment of genetic disorders, suggesting a promising avenue for this investigation.
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.