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.

该井石肌肉营养不良的肌肉组织/细胞培养/诊断核心研究中心是一个多方面的实验室，是肌肉营养不良研究的本地和国家资源。核心有两个主要目标。首先，核心将维持并继续发展在资金前五年内建立的骨骼肌活检和细胞培养物的存储库。在现有的肌肉活检中，有1000多个肌肉营养不良样本，包括营养不良（Duchenne和Becker肌肉营养不良），肢体弯曲肌肉营养不良和先天性肌肉营养不良。超过125例患者（主要是肌肉营养不良患者）患有皮肤活检，以在存储库中建立成纤维细胞培养物。我们将从各种来源中吸收新的标本：诊断肌肉活检，治疗手术程序，内膜活检，心脏外植体，皮肤活检和尸检。招募具有遗传定义的肌肉营养不良的患者进行活检，以维持广泛代表性的肌肉营养不良诊断。从核心和其他学术中心的研究研究人员可以使用核心的良好特征组织和细胞。核心的第二个目标是在临床实验室中提供不可用的专业诊断资源。这包括来自骨骼肌以及西方人的蛋白质印迹和培养细胞中的核形态测定法。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/诊断核心核心保持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联系，并作为肌肉性营养不良患者临床试验的国家活检测试资源。