VWF PHENOTYPING AND MOLECULAR ANALYSIS CORE

VWF 表型分析和分子分析核心

• 批准号: 7885357
• 负责人: ROBERT R MONTGOMERY
• 金额: $ 35.23万
• 依托单位: MEDICAL COLLEGE OF WISCONSIN
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至 2012-02-14
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7885357
• 关键词: Biological Assay; Biology; Blood; Canada; Classification; Clinical; Clinical Data; Collection; Complex; Complex Genetic Trait; DNA Sequence; Diagnosis; Diagnostic; Europe; Exons; Family; Genes; Genetic; Genetic Predisposition to Disease; Goals; Hemostatic function; Human; Investigation; Knowledge; Laboratories; Link; Molecular; Molecular Analysis; Molecular Genetics; Pathogenesis; Patients; Phenotype; Physician Executives; Positioning Attribute; Recruitment Activity; Research Design; Research Infrastructure; Running; Study Subject; Testing; VWF gene; Wisconsin; base; disease phenotype; experience; genetic linkage analysis; insight; novel; patient population; programs; trait; von Willebrand Disease; von Willebrand Factor

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

项目总监：Montgomery, Robert R. 核心 B 负责人：Bellissimo, Daniel B. 核心 B：VWF 表型分析和分子分析核心 A. 核心描述以及与组件项目的关系 核心 B 是 VWF 表型分析和分子分析核心。该核心由止血组成 东南血液中心参考实验室和分子诊断实验室 威斯康星州。止血参考实验室将负责完整的 VWF 实验室表型分析。这 分子诊断实验室将负责VWF基因的DNA测序、VWF基因连锁 对非连锁修饰基因或导致异常 VWF 的原因进行分析和 DNA 测序 表型。核心领导者 Bellissimo 博士获得了临床分子遗传学委员会认证，并拥有广泛的知识 指导临床分子诊断实验室的经验。他定期检查 DNA 测序数据 外显子 18-20、外显子 23-24 和外显子 28 的临床 VWF 测序测定。核心联合负责人 Friedman 博士， 是止血参考实验室的医学主任。他拥有丰富的临床管理经验 止血实验室，是冯维勒布兰德病的治疗和诊断以及审查方面的专家 VWF 实验室结果。 冯·维勒布兰德因子测试在技术上很复杂。我们认为，常规临床检查至关重要 实验室是