How common large-scale changes in DNA affect genes and health
Evolutionary and functional impact of common genomic structural variations
['FUNDING_OTHER'] · STATE UNIVERSITY OF NEW YORK AT BUFFALO · NIH-11262314
Researchers will look at how common large-scale DNA changes—like deletions, duplications, and inversions—affect genes and traits in people who carry them.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | STATE UNIVERSITY OF NEW YORK AT BUFFALO (nih funded) |
| Locations | 1 site (AMHERST, UNITED STATES) |
| Trial ID | NIH-11262314 on ClinicalTrials.gov |
What this research studies
This project will map common structural changes in human DNA—such as deletions, duplications, inversions, and translocations—using advanced long-read DNA sequencing and functional genomics data. The research team will combine evolutionary comparisons with lab experiments, including work in living models, to see which variants change gene function and influence metabolism or the immune system. They will test how different mutational mechanisms create these variants and how natural selection keeps or removes them, especially when coding regions are affected. The goal is to connect specific structural variants to biological effects that could matter for health.
Who could benefit from this research
Good fit: Ideal participants would be people with known large-scale DNA changes, individuals with unexplained genetic conditions, or anyone willing to provide DNA samples for research.
Not a fit: People without relevant structural variants or who cannot provide samples are unlikely to receive direct benefits from this project.
Why it matters
Potential benefit: If successful, this work could help identify DNA changes that cause or protect from disease, improving genetic diagnosis and suggesting new treatment targets.
How similar studies have performed: Previous studies have linked some structural variants to traits and disease and recent long-read sequencing tools have improved detection, but many functional effects of common structural variants remain untested.
Where this research is happening
AMHERST, UNITED STATES
- STATE UNIVERSITY OF NEW YORK AT BUFFALO — AMHERST, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: GOKCUMEN, OMER — STATE UNIVERSITY OF NEW YORK AT BUFFALO
- Study coordinator: GOKCUMEN, OMER
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.