FSHD Bioresources Core

芯A FSHD生物资源核心 在FSHD中未发现致病基因， 病理生理学仍不清楚。此外，复杂的遗传和表观遗传变化 排除了代表性动物模型的开发。因此，进入大型 大量充分表征的患者生物样本对于推进FSHD仍然至关重要 research.拟议的FSHD生物资源核心的总体目标是产生良好表征的 生物资源，以标准化的方式收集，并将有助于该计划 项目的四项拟议科学研究实现了其拟议目标。为此，我们将 来自a）FSHD 1受试者，B）FSHD 2（表型）受试者和c） 正常对照组。每组包括一个快速冷冻的肌肉样本，一个成肌细胞系， 和皮肤来源的成纤维细胞系。将对每例受试者进行全面的基因分型， FSHD区域和临床特征的总体疾病严重程度，肌肉群的力量 以及邻近肌肉活检的病理分级 sample.

CORE A FSHD BIORESOURCES CORE No pathogenic gene(s) have been identified in FSHD and the molecular and cellular pathophysiology remains unclear. Moreover, the complex genetic and epigenetic changes have precluded the development of a representative animal model. Consequently, access to large numbers of well-characterized, patient-derived biological samples remains vital in advancing FSHD research. The overall aim of the proposed FSHD Bioresources Core is to generate wellcharacterized biological resources, collected in a standardized way and that will assist the Program Project's four proposed scientific studies achieve their proposed aims. To this end we will generate sets of biological resources from a) FSHDl subjects, b) FSHD2 (phenotypic) subjects and c) normal control subjects. Each set will include a flash-frozen muscle sample, a myoblast cell line and a skin-derived fibroblast cell line. Each subject will be comprehensively genotyped for the FSHD region and clinically characterized for overall disease severity, strength of the muscle group from which the sample is derived as well as pathologic grading of an adjacent muscle biopsy sample.