Using advanced DNA and RNA sequencing to find genetic causes of diseases
Long-read DNA and RNA sequencing to identify disease-causing genetic variation and streamline testing
This study is looking at new ways to help doctors find out if someone has a genetic disorder by using advanced DNA and RNA testing, which could help people who have been struggling to get a diagnosis for their unexplained health issues.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project ID | NIH-10928256 on NIH RePORTER |
What this research studies
This research focuses on improving the diagnosis of genetic disorders by utilizing long-read DNA and RNA sequencing technologies. These advanced methods can identify complex genetic variations that traditional sequencing often misses, potentially leading to more accurate diagnoses for patients with unexplained genetic conditions. By analyzing a large group of individuals who have not been diagnosed despite extensive testing, the research aims to enhance the diagnostic rate and streamline genetic testing processes. This could significantly reduce the time and resources spent on identifying genetic disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with suspected genetic disorders who have not received a definitive diagnosis after standard testing.
Not a fit: Patients with well-defined genetic disorders that can be diagnosed through existing standard testing methods may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to faster and more accurate diagnoses for patients with genetic disorders, improving treatment options and outcomes.
How similar studies have performed: Other research has shown promise in using long-read sequencing technologies to improve genetic diagnosis, indicating that this approach may lead to significant advancements in the field.
Where this research is happening
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: Miller, Danny Erwin — University of Washington
- Study coordinator: Miller, Danny Erwin
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.