A center for coordinating data on genetic diseases.
University of Washington (UW) Mendelian Genomics Data Coordinating Center
This study is all about helping researchers and families affected by genetic disorders by improving how they share and work with important information, so we can learn more about these conditions and find better ways to help those who have them.
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-11061895 on NIH RePORTER |
What this research studies
This research focuses on enhancing the understanding of Mendelian conditions, which are genetic disorders caused by mutations in a single gene. The project aims to improve data sharing and collaboration among researchers by managing and validating genetic and phenotypic data collected from various research centers. By establishing a centralized data coordinating center, the initiative will facilitate connections between researchers, clinicians, and families affected by these conditions, ultimately leading to better insights and advancements in genetic research.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Mendelian conditions or those with a family history of such genetic disorders.
Not a fit: Patients with complex genetic conditions that do not fall under Mendelian disorders may not receive direct benefits from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for patients with Mendelian genetic disorders.
How similar studies have performed: Previous initiatives in Mendelian genomics have shown success in identifying genetic causes of disorders, indicating that this approach is built on established methodologies.
Where this research is happening
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: May, Susanne — University of Washington
- Study coordinator: May, Susanne
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.