THE MOLECULAR AND CLINICAL BIOLOGY OF VON WILLEBRAND DISEASE (VWD)

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The purpose of this study is to study the relationship between genetic defects of the von Willebrand factor (VWF) or related genes and the clinical impact on the diagnosis and management of their von Willebrand disease (VWD) bleeding disorder. The hypothesis is that most VWD is caused by a mutation in the VWF gene that causes reduced or abnormal VWF to be produced and this results in clinical bleeding and the diagnosis of VWD. These investigtors will study families in which there is a previous diagnosis of VWD and determine the segregation of bleeding symptoms, VWF protein abnormalities, and linkage with molecular defects in the VWF gene or other genes affecting VWF levels or bleeding symptoms. It is recognized that there may be VWF-level modifying genes (such as ABO blood type) and potential other genes such as glycosylation enzymes that in the murine system can cause the type 1 VWD phenotype by altering rates of VWF clearance.