Mapping conserved DNA switches to better understand complex diseases
Functional Mapping of Enhancer Conservation Between Species to Enable Mechanistic Insights into Polygenic Disease
Researchers are mapping DNA regulatory switches that humans and mice share to help people with common inherited conditions like diabetes, heart disease, and autoimmune disorders.
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-11170482 on NIH RePORTER |
What this research studies
Researchers will use high-throughput lab tools to find and test non-coding DNA regions that control gene activity, focusing on elements conserved between humans and mice. They will apply technologies like CRISPR-based screens and reporter assays to see which genetic variants change gene regulation in cells. Then they will identify the matching regions in mice and edit them so scientists can study the effects of those human genetic changes on whole-body function. The aim is to create better mouse models that reflect the genetic causes of complex human diseases so lab discoveries translate more reliably toward treatments.
Who could benefit from this research
Good fit: People with common complex conditions (for example, type 2 diabetes, heart disease, or autoimmune disorders) or those with genetic testing showing non-coding risk variants would be most relevant to this research.
Not a fit: People with single-gene (Mendelian) disorders or conditions unrelated to common genetic risk are less likely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could pinpoint disease-causing genetic switches and produce mouse models that speed development of targeted therapies.
How similar studies have performed: Large-scale CRISPR and reporter screens have already identified many regulatory elements, but mapping their conservation and testing equivalent mouse regions is a newer approach with limited prior examples.
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.