Identifying genetic causes of Mendelian conditions
University of Washington Mendelian Genomics Research Center (UW-MGRC)
This study is looking to find the genes behind over 2,900 inherited conditions that still need answers, and it's for families around the world who are hoping for better diagnoses and care.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project ID | NIH-11059223 on NIH RePORTER |
What this research studies
This research focuses on uncovering the genetic basis of over 2,920 Mendelian conditions, many of which remain unsolved. By analyzing samples from thousands of families worldwide, the team aims to identify new genes associated with these conditions. They utilize advanced analytical tools and innovative sequencing methods to enhance diagnostic capabilities and improve clinical care. Additionally, the project emphasizes open data sharing to facilitate collaboration among researchers, clinicians, and families.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals and families affected by Mendelian conditions, particularly those with unresolved genetic diagnoses.
Not a fit: Patients with conditions that are not classified as Mendelian or those whose conditions have already been genetically resolved may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostics and treatment options for patients with Mendelian conditions.
How similar studies have performed: Previous research has successfully identified genes for numerous Mendelian conditions, indicating a strong potential for breakthroughs in this area.
Where this research is happening
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: Wei, Chia-Lin — University of Washington
- Study coordinator: Wei, Chia-Lin
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.