How genetic differences change disease risk and affect cells
Predicting the impact of genetic variants, genes and pathways on human Disease
This project will identify which genetic differences change disease risk and how they act in specific human cell types.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11141024 on NIH RePORTER |
What this research studies
Researchers will combine large human genetic datasets with single-cell RNA and epigenetic maps to pinpoint where disease-linked DNA changes occur and which rare cell states they affect. They will use CRISPR-based laboratory tests and other functional genomics methods to see how individual variants alter gene activity. By tying variants to the genes and pathways they disrupt, the team aims to explain disease mechanisms for both rare and common conditions. The work uses data from the IGVF consortium and lab experiments performed at the research center.
Who could benefit from this research
Good fit: People with known or suspected genetic variants (including those with rare disorders, unexplained inherited conditions, or results from genome sequencing) would be most relevant to this effort.
Not a fit: Patients whose conditions are driven purely by environmental factors or who lack identifiable genetic variants may not directly benefit from this project.
Why it matters
Potential benefit: If successful, this work could make it easier to find the genetic causes of disease and point to new targets for diagnosis or treatments.
How similar studies have performed: Previous genome-wide studies and CRISPR functional screens have linked some variants to genes, but combining single-cell maps with systematic functional tests is a newer, expanding approach.
Where this research is happening
Boston, United States
- Brigham and Women's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Raychaudhuri, Soumya — Brigham and Women's Hospital
- Study coordinator: Raychaudhuri, Soumya
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.