How human evolution shapes our genes and gene regulation
Official title: Evolutionary Human Genomics: Demography, Natural Selection, and Transcriptional Regulation
Funded at Cold Spring Harbor Laboratory · NIH-11286780 · Data updated 2026-11-12
Researchers use large-scale human DNA data, AI, and evolutionary methods to find DNA changes and regulatory elements that affect health and cancer risk.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cold Spring Harbor Laboratory NIH-funded |
| Lab location | 1 site (Cold Spring Harbor, United States) |
| Project start | March 1, 2018 |
| Project end | February 29, 2028 |
| Funding year | 2026 |
| Award (this year) | $576,000 |
| NIH project number | 5R35GM127070-09 |
| Project ID | NIH-11286780 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are patients with cancer or a family history of cancer who are willing to share genetic or tumor data for research.
✕Less likely to help
Patients whose conditions are purely non-genetic, those unwilling to share genetic data, or those seeking immediate treatment changes are unlikely to benefit directly from this research.
What this research studies
If you are a patient, this project looks at large collections of human and mammalian genetic and epigenetic data to find which DNA changes and gene-regulating elements matter for health. Researchers combine ideas from evolution, population genetics, statistics, and AI to rebuild ancestral genetic histories, spot signs of natural selection, and predict which mutations harm function. They also analyze CRISPR-Cas9 screen results and RNA sequencing to identify essential genes and regulatory sequences. Although much of the work is computational, it relies on real human genomic and tumor datasets and could point to targets for future diagnostics or therapies.
Why it matters
Potential benefit: Could identify genes and regulatory regions linked to cancer and other diseases, helping guide future diagnostics and targeted treatments.
How similar studies have gone: Previous evolutionary and AI-driven genomic studies have highlighted disease-associated genes and regulatory elements, though turning these findings into therapies remains a work in progress.
Where this research is happening
-
Cold Spring Harbor Laboratory
Cold Spring Harbor, United States Active
Researchers
- Principal investigator: Siepel, Adam Charles — Cold Spring Harbor Laboratory
- Study coordinator: Siepel, Adam Charles
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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.