Detecting repeat DNA changes that cause inherited disorders
Refining Mendelian disease analysis via detection of clinically relevant repeat variants
Using whole genome sequencing and new computer tools, researchers will find repeated DNA changes that can cause inherited conditions like Huntington's disease, Fragile X, ALS, some forms of diabetes, and certain hereditary cancers.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project ID | NIH-11295454 on NIH RePORTER |
What this research studies
From your perspective, the team will sequence whole genomes and use improved software to spot repeat expansions, variable number tandem repeats (VNTRs), and duplicated gene regions that standard tests often miss. They will compare repeat length, sequence variation, and instability across patient genomes and existing datasets to find changes linked to inherited diseases. Promising findings will be checked against clinical records or laboratory tests to confirm whether a repeat change explains a person's condition. The goal is to make genetic testing more complete so more families get clear diagnoses.
Who could benefit from this research
Good fit: Ideal candidates are people or families with suspected inherited disorders who remain undiagnosed after standard genetic tests, or individuals with conditions known to involve repeat expansions (e.g., Huntington's, Fragile X, ALS, certain hereditary cancers).
Not a fit: Patients whose conditions are clearly non-genetic or due to single-letter DNA changes already identified as the cause may not benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could increase the number of accurate genetic diagnoses and uncover causes that current tests overlook, improving counseling and care decisions.
How similar studies have performed: Similar approaches have already found well-known repeat-caused diseases like Huntington's and Fragile X, but comprehensive detection of many repeat types across the genome is still a developing and expanding area.
Where this research is happening
La Jolla, United States
- University of California, San Diego — La Jolla, United States (Active)
Researchers
- Principal investigator: Gymrek, Melissa — University of California, San Diego
- Study coordinator: Gymrek, Melissa
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.