Understanding how rare genetic variants influence human traits
Rarely Common: Uncovering the dominant role of rare variants in the genetic architecture of complex human traits.
This study is looking at how rare genetic changes can influence health and traits in people, helping us understand their role in different diseases and conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-10745276 on NIH RePORTER |
What this research studies
This research investigates the role of rare genetic variants in shaping complex human traits. By using advanced techniques like massively parallel reporter assays (MPRAs), the study aims to validate how these ultrarare variants affect gene expression across different tissues in the body. The researchers will analyze genetic variation data to improve our understanding of how these rare variants contribute to various health conditions. This work could provide insights into the genetic factors underlying complex diseases.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with complex traits or diseases that may be influenced by rare genetic variants.
Not a fit: Patients with common genetic conditions or those without a family history of complex traits may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for complex diseases linked to rare genetic variants.
How similar studies have performed: Previous research has shown that understanding rare genetic variants can significantly enhance our knowledge of complex diseases, indicating a promising avenue for this study.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Hernandez, Ryan D. — University of California, San Francisco
- Study coordinator: Hernandez, Ryan D.
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.