Mapping which genes are affected by genetic differences in brain disorders
Variant-to-gene mapping for brain related traits and disorders
This project links genetic differences to the genes they change to better understand Alzheimer’s disease and other brain disorders.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11141811 on NIH RePORTER |
What this research studies
My team uses genetic data and lab methods that capture how DNA folds in three dimensions to find which genetic variants control genes in the brain. They combine 3C-based 3D mapping techniques with ATAC-seq and other gene-activity maps and compare those maps to large genetic studies tied to Alzheimer’s and related conditions. Because gene regulation differs by brain cell type, they focus on cell-type specific information, including human brain samples when available, to pinpoint likely causal variants and the genes they affect. The goal is to create clearer maps from genetic signals to target genes so researchers can prioritize the best targets for future therapies.
Who could benefit from this research
Good fit: People diagnosed with Alzheimer’s disease or related dementias, and individuals willing to donate blood or brain tissue samples, would be the most relevant participants.
Not a fit: Patients seeking immediate treatment improvements or those whose conditions are unrelated to genetic factors may not see direct benefits from this research.
Why it matters
Potential benefit: If successful, this work could identify specific genes to target for new Alzheimer’s treatments or diagnostics.
How similar studies have performed: Similar 3D-genome and epigenomic approaches have produced promising leads in other diseases and in some brain research, but applying them specifically to Alzheimer’s causal gene mapping is still emerging.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Chesi, Alessandra — University of Pennsylvania
- Study coordinator: Chesi, Alessandra
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.