A method to identify and analyze genetic variants in regulatory elements and genes.
Official title: varCUT&Tag: A Method for Simultaneous Identification and Characterization of Sequence Variants in Regulatory Elements and Genes
Funded at Univ of Massachusetts Med Sch Worcester · NIH-11134507 · Data updated 2026-11-12
This study is testing a new method called varCUT&Tag to help find rare genetic changes that can affect how genes work, which could lead to better understanding and treatment of genetic disorders for patients like you.
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 start | April 1, 2023 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $670,000 |
| NIH project number | 4UH3NS132136-03 |
| Project ID | NIH-11134507 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with unexplained genetic disorders or those who have a family history of genetic conditions.
✕Less likely to help
Patients with well-characterized genetic conditions that do not involve regulatory element mutations may not benefit from this research.
What this research studies
This research focuses on developing a new technique called varCUT&Tag, which aims to improve the identification of rare genetic variants that occur in regulatory regions of the genome. By utilizing advanced epigenetic profiling technologies, the method will allow for high coverage sequencing of these regions, which are crucial for understanding gene expression and function. Patients may benefit from this research as it could lead to better insights into genetic disorders and the role of regulatory elements in disease. The approach is designed to be cost-effective and adaptable to different cell types, enhancing its applicability across various conditions.
Why it matters
Potential benefit: If successful, this research could provide deeper insights into genetic variations that influence disease, potentially leading to improved diagnostics and targeted therapies.
How similar studies have gone: Other research has shown promise in using epigenetic profiling to identify genetic variants, suggesting that this approach could yield valuable insights.
Where this research is happening
-
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
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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.