Muscle Biopsy/Cell Culture/Diagnostics

肌肉活检/细胞培养/诊断

• 批准号: 8032689
• 负责人: STEVEN A MOORE
• 金额: $ 34.18万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-06-08 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8032689
• 关键词: Autopsy; Becker Muscular Dystrophy; Biological Assay; Biopsy; Bulla; Cell Culture Techniques; Cells; Clinical; Clinical Research; Clinical Trials; Coculture Techniques; Collagen; Conduct Clinical Trials; Consent; Cultured Cells; Development; Diagnosis; Diagnostic; Diagnostic tests; Disease; Evaluation; Fibroblasts; Funding; Genetic Counseling; Genotype; Goals; Heart; Hereditary Disease; In Vitro; Laboratories; Lead; Limb-Girdle Muscular Dystrophies; Link; Molecular Diagnosis; Molecular Genetics; Morphology; Muscle; Muscular Dystrophies; Myoblasts; Myocardium; Myopathy; Nuclear; Online Systems; Operative Surgical Procedures; Patients; Phenotype; Physicians; Procedures; Proteins; Protocols documentation; Recruitment Activity; Research; Research Infrastructure; Research Personnel; Resources; Sampling; Skeletal Muscle; Skin; Source; Specimen; Testing; Therapeutic; Therapeutic Intervention; Tissues; Universities; Variant; Western Blotting; base; congenital muscular dystrophy; improved; interest; medical specialties; novel; novel diagnostics; post intervention; prognostic; repository; research and development; tissue/cell culture

The Muscle Tissue/Cell Culture/Diagnostics Core for this Wellstone Muscular Dystrophy Cooperative Research Center is a multifaceted laboratory that serves as a local and a national resource for muscular dystrophy research. There are two major goals of the Core. First, the Core will maintain and continue to grow the Repository of skeletal muscle biopsies and cell cultures established during the first five years of funding. Among the existing muscle biopsies are more than 1000 muscular dystrophy samples that include dystrophinopathies (Duchenne and Becker muscular dystrophy), limb-girdle muscular dystrophies, and congenital muscular dystrophies. More than 125 patients (primarily muscular dystrophy patients) have undergone skin biopsies to establish fibroblast cultures in the Repository. We will accrue new specimens into the Repository from a variety of sources: diagnostic muscle biopsies, therapeutic surgical procedures, endomyocardial biopsies, heart explants, skin biopsies, and autopsies. Patients with genetically defined muscular dystrophies are recruited to undergo biopsies in order to maintain a widely representative spectrum of muscular dystrophy diagnoses. Well-characterized tissues and cells from the Core are made available to research investigators at lowa and other academic centers. The second goal of the Core is to provide specialty diagnostic resources unavailable in clinical laboratories. This includes western blots from skeletal muscle as well as on-cell westerns and nuclear morphology assays in cultured cells. The Core facilitates development of new diagnostic tests for transfer to the clinical laboratory, and serves as a post-intervention biopsy evaluation resource for investigators conducting clinical trials. Thus, the Muscle Tissue/Cell Culture/Diagnostics Core maintains a vital resource of muscular dystrophy tissues and cell cultures, provides a critical diagnostic link in expanding the number of patients with specific, molecular diagnoses, and serves as a national biopsy testing resource for clinical trials in muscular dystrophy patients.

肌肉组织/细胞培养/诊断核心为这个井石肌营养不良合作社 研究中心是一个多方面的实验室，作为一个地方和国家资源的肌肉萎缩症研究。核心有两个主要目标。首先，核心将维持并继续发展在前五年资助期间建立的骨骼肌活检和细胞培养库。在现有的肌肉活检中，有超过1000个肌营养不良样本，包括肌营养不良蛋白病（杜氏和贝克尔肌营养不良），肢带肌营养不良和先天性肌营养不良。超过125名患者（主要是肌营养不良症患者）接受了皮肤活检，以在储存库中建立成纤维细胞培养物。我们将从各种来源向储存库中增加新的标本：诊断性肌肉活检、治疗性外科手术、肌内膜活检、心脏外植体、皮肤活检和尸检。招募患有遗传性肌营养不良症的患者进行活检，以保持广泛代表性的肌营养不良症诊断谱。来自核心的特征良好的组织和细胞可供爱荷华州和其他学术中心的研究人员使用。核心的第二个目标是提供临床实验室无法提供的专业诊断资源。这包括来自骨骼肌的蛋白质印迹以及细胞上蛋白质印迹和培养细胞中的核形态学测定。Core有助于开发新的诊断测试以转移到临床实验室，并作为进行临床试验的研究者的干预后活检评估资源。因此，肌肉组织/细胞培养/诊断核心维护了肌营养不良组织和细胞培养的重要资源，为扩大具有特定分子诊断的患者数量提供了关键的诊断环节，并作为肌营养不良患者临床试验的国家活检测试资源。