Understanding how genetic variations affect diseases across different species
Functional Mapping of Enhancer Conservation Between Species to Enable Mechanistic Insights into Polygenic Disease
This study is looking at how certain parts of our DNA that don't code for proteins can affect genetic diseases, and it's for anyone interested in understanding how these hidden pieces of our genes might influence health and illness.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project ID | NIH-10895522 on NIH RePORTER |
What this research studies
This research investigates the role of non-coding regions of the genome, particularly enhancers, in influencing genetic diseases. By utilizing advanced techniques like CRISPR-based screens and massively parallel reporter assays, the project aims to identify and characterize genetic variations that contribute to complex traits and diseases. The findings could help in understanding how these variations function at a molecular level and their implications for human health. The research will also explore how these genetic elements can be modeled in animal models to gain insights into their physiological effects.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with polygenic diseases or those interested in genetic factors influencing their health.
Not a fit: Patients with single-gene disorders or those not affected by polygenic diseases may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for polygenic diseases by identifying key genetic factors involved.
How similar studies have performed: Other research has shown promise in using CRISPR and similar genomic approaches to understand genetic variations, indicating that this methodology is gaining traction in the field.
Where this research is happening
Bar Harbor, United States
- Jackson Laboratory — Bar Harbor, United States (Active)
Researchers
- Principal investigator: Tewhey, Ryan — Jackson Laboratory
- Study coordinator: Tewhey, Ryan
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.