Investigating how genetic inversions in the human genome relate to diseases.
Uncovering inversion formation in the human genome and its impact to disease.
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 ID | NIH-10832612 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with congenital defects or malignancies that may be linked to genetic inversions.
Not a fit: Patients without congenital anomalies or cancers are unlikely to benefit from this research.
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 performed: 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
Seattle, United States
- 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 below.