How genes control von Willebrand factor release
The Molecular Genetics of Von Willebrand Factor Secretion
This project maps how genetic differences change von Willebrand factor levels in people with bleeding or clotting risks.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-11393315 on NIH RePORTER |
What this research studies
From a patient's perspective, researchers are looking at how genetic changes affect the amount of von Willebrand factor (VWF) your body releases, which influences bleeding and clotting. They will combine genetic studies across many people with detailed laboratory tests of specific VWF gene variants, including ones found in patients, to see how each change alters VWF secretion and stability. The team will use population genetic data (like GWAS) to find regions that modify VWF levels and then run functional assays on individual mutations to explain their effects. The work aims to reduce uncertainty when doctors find a new VWF variant in a patient and improve genetic diagnosis.
Who could benefit from this research
Good fit: Ideal candidates would include people with unexplained bleeding, those diagnosed with von Willebrand disease, people with unusually low or high plasma VWF levels, or individuals who have a detected VWF genetic variant.
Not a fit: People whose bleeding problems are unrelated to VWF or who do not undergo genetic testing are unlikely to gain direct benefit from this work.
Why it matters
Potential benefit: If successful, this could help doctors interpret genetic test results better and tailor bleeding or clotting care to each patient.
How similar studies have performed: Previous genetic and small-scale laboratory studies have linked blood group and other loci to VWF levels and explained some mutations, but large-scale functional mapping of most VWF variants is still novel.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Desch, Karl C — University of Michigan at Ann Arbor
- Study coordinator: Desch, Karl C
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.