Exploring how non-coding genetic variations affect rare disorders
Investigating the contribution of non-coding genetic variation to rare disorders
This study is looking at how certain hidden genetic changes can affect rare disorders that often go undetected, and it's designed to help patients with unexplained genetic issues by improving how we understand and diagnose their conditions.
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-10914101 on NIH RePORTER |
What this research studies
This research investigates the role of non-coding genetic variations in rare disorders, which are often overlooked in current genetic testing methods. By utilizing a novel approach that maps both genetic and epigenetic landscapes, the study aims to identify how these variations disrupt gene regulation and contribute to disease. Patients with unexplained genetic disorders may benefit from this research as it seeks to improve the understanding of their conditions and enhance diagnostic accuracy. The methodology involves advanced sequencing techniques that go beyond traditional genetic testing.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with rare disorders that have not been explained by current genetic testing methods.
Not a fit: Patients with well-characterized genetic disorders that are already understood through existing genetic testing may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and targeted therapies for patients with rare genetic disorders.
How similar studies have performed: Other research has shown promise in exploring non-coding genetic variations, but this approach is relatively novel and aims to address significant gaps in current genetic testing.
Where this research is happening
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: Stergachis, Andrew Ben — University of Washington
- Study coordinator: Stergachis, Andrew Ben
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.