varCUT&Tag: finding rare DNA changes in genes and their regulatory regions
varCUT&Tag: A Method for Simultaneous Identification and Characterization of Sequence Variants in Regulatory Elements and Genes
This project develops a lab method to find rare DNA changes in gene control regions and the nearby epigenetic signals that could help people with genetic or unexplained conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project ID | NIH-11333044 on NIH RePORTER |
What this research studies
Researchers are creating a lab tool called varCUT&Tag that targets the parts of DNA that control how genes are turned on and off. The method combines targeted sequencing of regulatory elements with profiling of epigenetic marks so each rare DNA change can be read together with the chemical signals around it. That approach aims to catch rare variants missed by standard whole-genome or exome tests and to show whether those variants are likely to change gene activity. The team will test the technique across different cell types and tissue samples to make it broadly useful.
Who could benefit from this research
Good fit: People with suspected genetic conditions, unexplained disorders after negative standard genetic tests, or those willing to donate tissue or blood samples for research would be the best fits.
Not a fit: People whose conditions are clearly non-genetic or who do not want genetic or tissue-based testing are unlikely to benefit directly from this work.
Why it matters
Potential benefit: If successful, this could help identify previously missed genetic changes that alter gene regulation, improving diagnosis and guiding more personalized care.
How similar studies have performed: High-depth targeted sequencing and epigenetic profiling have shown promise separately, but combining rare-variant detection with simultaneous epigenetic characterization is a novel approach that is just beginning to be tested.
Where this research is happening
Worcester, United States
- Univ of Massachusetts Med Sch Worcester — Worcester, United States (Active)
Researchers
- Principal investigator: Fazzio, Thomas G — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Fazzio, Thomas G
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.