Detecting DNA mutations with high accuracy
Official title: Ultra-High Fidelity Single-Molecule Profiling of Mosaic Double- and Single-Strand DNA Mutations and Damage
Funded at New York University School of Medicine · NIH-11081945 · Data updated 2026-11-12
This study is testing a new way to read DNA more accurately without making mistakes, which could help doctors find changes in genes that happen in healthy cells over time, ultimately leading to better diagnoses and personalized treatments for patients.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | New York University School of Medicine NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | April 10, 2023 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $669,742 |
| NIH project number | 4UH3NS132024-03 |
| Project ID | NIH-11081945 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with a history of genetic mutations or those at risk for conditions related to somatic mosaicism.
✕Less likely to help
Patients with no known genetic mutations or those not at risk for genetic conditions may not receive direct benefits from this research.
What this research studies
This research focuses on developing a new technology called Hairpin Duplex Enhanced Fidelity Sequencing (HiDEF-seq) that allows for the direct sequencing of DNA without amplification, which can introduce errors. By achieving ultra-high fidelity in sequencing, this approach aims to detect both double-strand and single-strand DNA mutations that occur in healthy cells over time. The project will work closely with the SMaHT Network to create a comprehensive catalogue of somatic mosaicism in human tissues, enhancing our understanding of genetic variations. Patients may benefit from improved diagnostic capabilities and personalized treatment options based on more accurate genetic profiling.
Why it matters
Potential benefit: If successful, this research could lead to more accurate detection of DNA mutations, improving diagnosis and treatment strategies for various conditions, including cancers.
How similar studies have gone: Other research has shown promise in developing high-fidelity sequencing technologies, but this specific approach is novel and untested.
Where this research is happening
-
New York University School of Medicine
New York, United States Active
Researchers
- Principal investigator: Evrony, Gilad David — New York University School of Medicine
- Study coordinator: Evrony, Gilad David
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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.