Duplicated genes and their role in human disease and evolution
The regulatory landscape of segmentally duplicated genes: Implications for human evolution and disease
['FUNDING_OTHER'] · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · NIH-11464704
Researchers will map how repeated sections of DNA control genes to help people with genetic conditions and related diseases.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH (nih funded) |
| Locations | 1 site (SALT LAKE CITY, UNITED STATES) |
| Trial ID | NIH-11464704 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: 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.
Not a fit: Patients seeking an immediate treatment or whose conditions are unrelated to genetic or regulatory variation are unlikely to receive direct benefit from this project.
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 performed: 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
SALT LAKE CITY, UNITED STATES
- 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.
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.