Predicting how genetic variants affect human disease
Official title: Predicting the impact of genetic variants, genes and pathways on human Disease
Funded at Brigham and Women's Hospital · NIH-11513893 · Data updated 2026-11-12
A research project aims to understand how genetic differences influence disease by mapping how non-coding variants and genes control cell behavior.
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 start | September 7, 2021 |
| Project end | May 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $685,894 |
| NIH project number | 3U01HG012009-05S1 |
| Project ID | NIH-11513893 on NIH RePORTER |
Who could benefit from this research
✓Could help
Not applicable for this grant as described; the study uses genomic data and patient-derived information but does not specify direct enrollment of patients.
✕Less likely to help
The grant does not describe direct patient participation or immediate clinical benefits.
What this research studies
This project will use advanced genomic data to predict how disease-related genetic variants influence cell types and regulatory mechanisms at fine detail. Researchers will combine single-cell and epigenetic information to link variants to the genes and pathways they affect. The results could reveal new clues about disease biology and highlight potential targets for therapy.
Why it matters
Potential benefit: It could lead to better understanding of disease mechanisms and inform precision medicine approaches.
How similar studies have gone: Similar genomic approaches have successfully linked variants to regulatory features and disease genes in other studies, but this project aims to extend that work to single-base resolution and pathway-level insights.
Where this research is happening
-
Brigham and Women's Hospital
Boston, United States Active
Researchers
- Principal investigator: Raychaudhuri, Soumya — Brigham and Women's Hospital
- Study coordinator: Raychaudhuri, Soumya
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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.