Duplicated genes and their role in human disease and evolution
Official title: The regulatory landscape of segmentally duplicated genes: Implications for human evolution and disease
Funded at Utah State Higher Education System--University of Utah · NIH-11464704 · Data updated 2026-11-12
Researchers will map how repeated sections of DNA control genes to help people with genetic conditions and related diseases.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Utah State Higher Education System--University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project start | August 1, 2024 |
| Project end | December 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $248,965 |
| NIH project number | 4R00GM155552-03 |
| Project ID | NIH-11464704 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with inherited conditions suspected to involve duplicated genes, or individuals willing to donate DNA or tissue samples, would be the most relevant candidates to contribute data or specimens.
✕Less likely to help
Patients seeking an immediate treatment or whose conditions are unrelated to genetic or regulatory variation are unlikely to receive direct benefit from this project.
What this research studies
This project will build a large, combined map of human genomes to better represent repeated (segmentally duplicated) regions of DNA. Scientists will use long-read sequencing and a technique called Fiber-seq to read these complex regions and find regulatory "switches" that turn genes on or off. They will apply machine learning and statistical methods to place these regulatory features into the pangenome map and compare patterns across different tissues. The goal is to see whether duplicated gene copies have changed their regulatory roles and how that might relate to disease.
Why it matters
Potential benefit: If successful, this work could reveal previously hidden genetic causes of disease and enable better diagnosis and future targeted therapies.
How similar studies have gone: This builds on recent successes in creating human pangenomes and applying long-read and epigenomic methods, but applying these tools specifically to segmental duplications is a newer, less-charted approach.
Where this research is happening
-
Utah State Higher Education System--University of Utah
Salt Lake City, United States Active
Researchers
- Principal investigator: Vollger, Mitchell R. — Utah State Higher Education System--University of Utah
- Study coordinator: Vollger, Mitchell R.
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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.