Improving detection of genetic variants linked to certain diseases
Refining Mendelian disease analysis via detection of clinically relevant repeat variants
This study is working on better ways to find tricky genetic changes linked to certain inherited diseases, especially those that involve repeated DNA sequences, so that patients can get more accurate diagnoses and tailored treatments based on their unique genetics.
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-11077796 on NIH RePORTER |
What this research studies
This research focuses on enhancing the identification of complex genetic variants, particularly repeat variants, that are associated with Mendelian diseases. By utilizing whole genome sequencing, the project aims to develop advanced algorithms that can detect these variants more effectively than current methods, which primarily target simpler genetic changes. The study will analyze various types of repeats, such as short tandem repeats and variable number tandem repeats, which are known to contribute to several neurodegenerative and psychiatric disorders. Patients may benefit from improved diagnostic accuracy and personalized treatment options based on their genetic profiles.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with neurodegenerative diseases like ALS or FTD, as well as those with other Mendelian disorders potentially linked to repeat variants.
Not a fit: Patients with conditions not associated with genetic repeat variants may not receive any benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnosis and treatment strategies for patients with genetic disorders linked to repeat variants.
How similar studies have performed: Previous research has shown promise in identifying genetic variants using whole genome sequencing, suggesting that this approach could yield significant advancements in understanding Mendelian diseases.
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.