Understanding how genetic differences affect our bodies
Function-based exploration of genetic variation at genome-scale
This project aims to discover how tiny changes in our DNA, called genetic variants, influence our health and disease risk.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-11167812 on NIH RePORTER |
What this research studies
Researchers are exploring how genetic variations in the non-coding parts of our DNA impact how our genes are regulated. They plan to use advanced tools like CRISPR/Cas9 to systematically examine an entire human chromosome. This will help them map out the complex networks that control how genes work. By doing this, they hope to pinpoint which specific genetic changes are responsible for certain traits or diseases, ultimately helping us understand the fundamental ways our genes contribute to our health.
Who could benefit from this research
Good fit: This foundational research does not directly involve patient participation at this stage, but future studies building on this knowledge may seek individuals with specific genetic conditions.
Not a fit: Patients seeking immediate new treatments or direct clinical interventions would not find direct benefit from this basic science project.
Why it matters
Potential benefit: If successful, this work could lead to a deeper understanding of the genetic causes of many diseases, potentially guiding the development of new diagnostic tools and treatments.
How similar studies have performed: While the overall approach of studying genetic variation is established, the proposed large-scale application of targeted Perturb-seq to systematically map an entire human chromosome's regulatory circuitry is a novel and advanced methodology.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Steinmetz, Lars M — Stanford University
- Study coordinator: Steinmetz, Lars M
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.