Understanding how genetic differences control gene activity in cells
Massively parallel characterization of variants and elements impacting transcriptional regulation in dynamic cellular systems
This project aims to understand how tiny changes in our DNA affect how our genes work, which can lead to common and rare diseases.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project ID | NIH-11126604 on NIH RePORTER |
What this research studies
Many common and rare diseases are linked to specific areas in our DNA that control how genes turn on and off. However, it's often hard to pinpoint exactly which genetic changes and control regions are responsible for these disease effects. This project uses advanced technologies to test over a million human genetic control elements and variations to see how they impact gene activity. Researchers will use various cell types, including heart and brain cells grown in the lab, to understand these complex interactions. The goal is to create a comprehensive catalog of how genetic variations influence gene function, providing a clearer picture of disease causes.
Who could benefit from this research
Good fit: This foundational research does not directly involve patient participation but aims to benefit individuals with common and rare diseases caused by genetic variations.
Not a fit: Patients seeking immediate new treatments or direct clinical intervention will not find direct benefit from this basic science project.
Why it matters
Potential benefit: If successful, this work could lead to a much better understanding of the genetic roots of many diseases, paving the way for new ways to diagnose and treat them.
How similar studies have performed: The researchers have pioneered many of the advanced technologies used in this project and have experience in cataloging genetic variant effects, suggesting a strong foundation for this novel approach.
Where this research is happening
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: Shendure, Jay Ashok — University of Washington
- Study coordinator: Shendure, Jay Ashok
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.