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Muscle Biopsy/Cell Culture/Diagnostics

肌肉活检/细胞培养/诊断

基本信息

批准号：
8377949
负责人：
STEVEN A MOORE
金额：
$ 33.27万
依托单位：
UNIVERSITY OF IOWA
依托单位国家：
美国
项目类别：
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/8377949
关键词：
Autopsy Basic Science 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 Variant Western Blotting base congenital muscular dystrophy improved interest medical specialties novel novel diagnostics post intervention prognostic repository research and development tissue/cell culture

项目摘要

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.

Wellstone 肌营养不良合作社的肌肉组织/细胞培养/诊断核心研究中心是一个多方面的实验室，作为当地和国家肌肉营养不良症研究的资源。核心有两个主要目标。首先，核心将维护并继续发展在资助的前五年期间建立的骨骼肌活检和细胞培养物存储库。现有的肌肉活检中有 1000 多个肌营养不良症样本，其中包括肌营养不良症（杜氏肌营养不良症和贝克尔肌营养不良症）、肢带型肌营养不良症和先天性肌营养不良症。超过 125 名患者（主要是肌营养不良症患者）接受了皮肤活检，以在存储库中建立成纤维细胞培养物。我们将从各种来源将新标本积累到存储库中：诊断性肌肉活检、治疗性外科手术、心内膜心肌活检、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，以保持肌营养不良症诊断的广泛代表性。 Lowa 和其他学术中心的研究人员可以使用来自 Core 的经过充分表征的组织和细胞。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。这包括骨骼肌的蛋白质印迹以及培养细胞的细胞蛋白质印迹和核形态分析。该核心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人员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，为扩大具有特异性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检测资源。