How human genetic differences change gene activity through the 3D folding of DNA
Official title: Studying the function of human genetic variation in the light of 3D genome organization
Funded at La Jolla Institute for Immunology · NIH-11159518 · Data updated 2026-11-12
This project looks at how genetic differences in people alter the three-dimensional folding of DNA in cells to help explain links to autoimmune diseases and cancers.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | La Jolla Institute for Immunology NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project start | August 1, 2018 |
| Project end | July 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $494,100 |
| NIH project number | 5R35GM128938-08 |
| Project ID | NIH-11159518 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with autoimmune diseases or cancers, or individuals willing to donate blood or tissue samples with linked genetic information, would be most relevant for related sample-collection or follow-up studies.
✕Less likely to help
Patients seeking immediate treatment changes or rapid symptom relief are unlikely to benefit directly from this basic, longer-term research.
What this research studies
This work combines computer analysis of human genetic data with new lab experiments that map how DNA is folded and connected inside different cell types. Researchers will link genetic variants found by large genetic studies to changes in DNA looping or regional connectivity, even when those variants do not obviously change gene activity. The team will refine computational tools and lab assays over several years to build maps that connect specific variants to disease-relevant cell functions. Those maps are intended to help point to the most likely causal variants for autoimmune diseases and cancers.
Why it matters
Potential benefit: If successful, this work could reveal how particular genetic changes drive disease by reshaping DNA folding, helping to identify better diagnostic markers or future drug targets.
How similar studies have gone: Related studies using 3D genome mapping with genetic data have found some causal variants, but fully linking many disease-associated variants to function is still an active and partially novel challenge.
Where this research is happening
-
La Jolla Institute for Immunology
La Jolla, United States Active
Researchers
- Principal investigator: Ay, Ferhat — La Jolla Institute for Immunology
- Study coordinator: Ay, Ferhat
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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.