Program Director: Montgomery, Robert R. Core B Leader: Bellissimo, Daniel B. CORE B: VWF PHENOTYPING ANDMOLECULAR ANALYSIS CORE A. Description of Core and Relationship to Component Projects Core B is the VWF Phenotyping and Molecular Analysis Core. This Core is composed of the Hemostasis Reference Laboratory and the Molecular Diagnostics Laboratories at The Blood Center of Southeastern Wisconsin. The Hemostasis Reference Laboratory will be responsible for full VWF laboratory phenotyping. The Molecular Diagnostics Laboratory will be responsible for DNA sequencing of the VWF gene, VWF gene linkage analysis and DNA sequencing of non-linked modifier genes or causes that contribute to an abnormal VWF phenotype. The Core Leader, Dr. Bellissimo, is board certified in Clinical Molecular Genetics and has extensive experience directing a clinical molecular diagnostics laboratory. He routinely reviews DNA sequencing data for clinical VWF sequencing assays for exons 18-20, exons 23-24 and exon 28. The Core Co-Leader, Dr. Friedman, is the medical director of the Hemostasis Reference Laboratory. He has extensive experience running a clinical hemostasis laboratory and is an expert in the treatment and diagnosis of von Willebrand disease and in reviewing VWF laboratory results. Von Willebrand factor testing is technically complex. We feel that it is critically important that a routine clinical lab be the

Agency
National Institute of Health (NIH)
Institute
National Heart, Lung, and Blood Institute (NHLBI)
Type
Research Program Projects (P01)
Project #
5P01HL081588-05
Application #
7885357
Study Section
Special Emphasis Panel (ZHL1)
Project Start
Project End
2012-02-14
Budget Start
2009-07-01
Budget End
2012-02-14
Support Year
5
Fiscal Year
2009
Total Cost
$352,323
Indirect Cost
Name
Medical College of Wisconsin
Department
Type
DUNS #
937639060
City
Milwaukee
State
WI
Country
United States
Zip Code
53226
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Mufti, Ahmad H; Ogiwara, Kenichi; Swystun, Laura L et al. (2018) The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance. Blood Adv 2:1585-1594
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Selvam, Soundarya N; Casey, Lara J; Bowman, Mackenzie L et al. (2017) Abnormal angiogenesis in blood outgrowth endothelial cells derived from von Willebrand disease patients. Blood Coagul Fibrinolysis 28:521-533
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Selvam, Soundarya; James, Paula (2017) Angiodysplasia in von Willebrand Disease: Understanding the Clinical and Basic Science. Semin Thromb Hemost 43:572-580
Lorenz, Viola; Ramsey, Haley; Liu, Zhi-Jian et al. (2017) Developmental Stage-Specific Manifestations of Absent TPO/c-MPL Signalling in Newborn Mice. Thromb Haemost 117:2322-2333
Bowman, M L; Pluthero, F G; Tuttle, A et al. (2017) Discrepant platelet and plasma von Willebrand factor in von Willebrand disease patients with p.Pro2808Leufs*24. J Thromb Haemost 15:1403-1411
Doruelo, A L; Haberichter, S L; Christopherson, P A et al. (2017) Clinical and laboratory phenotype variability in type 2M von Willebrand disease. J Thromb Haemost 15:1559-1566

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