Finding disease genes by linking DNA changes, gene activity, and epigenetics
An integrative approach to disease gene discovery combining genetic variation, gene expression, and epigenetics.
['FUNDING_OTHER'] · MASSACHUSETTS GENERAL HOSPITAL · NIH-11296870
This project builds open-source computer tools to connect genetic differences, gene activity, and epigenetic marks to find genes linked to diseases like age-related macular degeneration.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MASSACHUSETTS GENERAL HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11296870 on ClinicalTrials.gov |
What this research studies
Researchers are creating new statistical methods to detect how DNA variants change gene activity using large gene-expression datasets, including single-cell RNA sequencing. They will gather and analyze more than 24 public bulk and single-cell datasets to build a comprehensive repository of genetic effects on gene expression, including rare variants and both cis- and trans-effects. The team will integrate epigenetic and other molecular data to better link genetic signals to biological processes and make the software and results publicly available so other scientists and clinicians can use them.
Who could benefit from this research
Good fit: People with age-related macular degeneration or others who can share genetic data or tissue-derived molecular data would be most relevant to the project.
Not a fit: Patients seeking immediate clinical treatment or those without any genetic or molecular data to contribute are unlikely to receive direct benefit from this grant.
Why it matters
Potential benefit: If successful, this work could speed up discovery of disease-causing genes and point to new targets for diagnostics and treatments.
How similar studies have performed: Previous eQTL and multi-omics studies have helped link genes to disease, but scaling to large single-cell datasets and rare-variant mapping is relatively new and still emerging.
Where this research is happening
BOSTON, UNITED STATES
- MASSACHUSETTS GENERAL HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ZHOU, WEI — MASSACHUSETTS GENERAL HOSPITAL
- Study coordinator: ZHOU, WEI
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.