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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：
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
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/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

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肌营养不良症合作社的肌肉组织/细胞培养/诊断核心研究中心是一个多方面的实验室，为肌营养不良症的研究提供地方和国家资源。核心有两个主要目标。首先，Core将维持并继续发展在最初五年资助期间建立的骨骼肌活组织检查和细胞培养资料库。在现有的肌肉活检中，有1000多个肌营养不良症样本，包括营养不良症(Duchenne和Becker肌营养不良症)、四肢带状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，以在资料库中建立成纤维细胞培养。我们将从各种来源获得新的标本：诊断性肌肉活组织检查、治疗性外科手术、心内膜心肌活组织检查、心脏移植、皮肤活组织检查和尸检。有基因定义的肌营养不良症的患者被招募接受活组织检查，以保持广泛代表性的肌营养不良症诊断谱。爱荷华州和其他学术中心的研究人员可以获得来自Core的特征良好的组织和细胞。CORE的第二个目标是提供临床实验室无法获得的专业诊断资源。这包括骨骼肌的蛋白质印迹，以及培养细胞的细胞内蛋白质和核形态分析。该中心促进新诊断测试的开发，以便转移到临床实验室，并为进行临床试验的研究人员提供干预后活组织检查评估资源。因此，肌肉组织/细胞培养/诊断核心保持着肌肉营养不良组织和细胞培养的重要资源，在扩大具有特定分子诊断的患者数量方面提供了关键的诊断环节，并作为肌肉营养不良患者临床试验的全国活检测试资源。