High-Fidelity DNA Sequencing of FMR1 CGG Repeats and Methylation in Fragile X
Official title: High-Fidelity Nanopore Sequencing of CGG Repeats and Methylation in the FMR1 Gene
Funded at Electronic Biosciences, INC. · NIH-11343472 · Data updated 2026-11-12
A new method will be developed to precisely measure CGG repeats and DNA methylation in the FMR1 gene to improve diagnosis and understanding of Fragile X–related autism.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Electronic Biosciences, INC. NIH-funded |
| Lab location | 1 site (San Diego, United States) |
| Project start | September 1, 2026 |
| Project end | August 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $472,706 |
| NIH project number | 1R21HD121871-01 |
| Project ID | NIH-11343472 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with Fragile X syndrome or related autism spectrum conditions who undergo genetic testing for FMR1.
✕Less likely to help
People without Fragile X–related conditions are unlikely to benefit from this specific genetic analysis.
What this research studies
This project aims to create a sequencing approach that can count CGG repeats in FMR1 and map DNA methylation patterns on the same gene copy, which current tests cannot do. By applying this technology to Fragile X and related autism conditions, researchers hope to better predict symptom severity and potential responses to therapies. The work will combine advanced nanopore sequencing with methylation analysis to generate more informative diagnostic data. The goal is to move toward more accurate, individualized assessments for affected individuals and families.
Why it matters
Potential benefit: If successful, patients could receive more precise diagnoses and better-informed treatment decisions based on their FMR1 repeat count and methylation profile.
How similar studies have gone: Previous approaches exist for CGG counting or methylation alone, but combined, high-fidelity, copy-specific methylation mapping is novel and promising.
Where this research is happening
-
Electronic Biosciences, INC.
San Diego, United States Active
Researchers
- Principal investigator: Ervin, Eric — Electronic Biosciences, INC.
- Study coordinator: Ervin, Eric
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.