Exploring how genetic variations affect gene expression and disease risk
Modeling the dynamicimpact of rare and common genetic variation on gene expression anddisease
This study is looking at how different genetic changes, both rare and common, can affect how our genes work and how they might be connected to diseases, helping us understand more about the role of genetics in health.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11004365 on NIH RePORTER |
What this research studies
This research investigates the impact of both rare and common genetic variations on gene expression and their potential link to diseases. By analyzing genetic data from individuals, the study aims to identify which genes are affected by these variations and under what conditions. The approach includes developing new statistical methods to interpret whole genome sequences, particularly focusing on rare genetic variants that are often overlooked in current studies. This could lead to a better understanding of how genetic factors contribute to disease risk and progression.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with a family history of genetic disorders or those who have undergone whole genome sequencing.
Not a fit: Patients with no known genetic predisposition to diseases or those who do not have access to genetic testing may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could enhance personalized medicine by improving the understanding of genetic contributions to diseases, leading to better prevention and treatment strategies.
How similar studies have performed: Previous research has shown success in linking genetic variations to disease through expression quantitative trait loci (eQTLs), but this study aims to expand on that by including rare variants, making it a novel approach.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Battle, Alexis — Johns Hopkins University
- Study coordinator: Battle, Alexis
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.