Understanding how certain genes affect human evolution and disease
The regulatory landscape of segmentally duplicated genes: Implications for human evolution and disease
This study is looking at special parts of our DNA that have duplicated and changed quickly, to help us understand how they work in our bodies and how they might be linked to diseases, all while using advanced technology to get a clearer picture of our genetic makeup.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project ID | NIH-10947161 on NIH RePORTER |
What this research studies
This research investigates the role of segmental duplications in the human genome, which are regions that have duplicated and evolved rapidly. By constructing a comprehensive pangenome graph using high-quality genome assemblies, the project aims to map regulatory DNA and identify important genetic elements within these duplications. The methodology includes advanced techniques like long-read chromatin fiber sequencing to analyze how these gene families function across different tissues. This research seeks to uncover insights into human evolution and the genetic factors that may contribute to diseases.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with a family history of genetic diseases or those interested in the genetic basis of human evolution.
Not a fit: Patients with no known genetic predispositions or those not interested in genetic research may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of genetic factors influencing human health and disease susceptibility.
How similar studies have performed: Previous research has shown promise in understanding gene regulation through similar genomic approaches, indicating potential for success in this area.
Where this research is happening
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: Vollger, Mitchell R. — University of Washington
- Study coordinator: Vollger, Mitchell R.
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.