Patient Resource Core

项目总结 为了研究硬皮病(SSC)和系统性红斑狼疮(SLE)等异质疾病中复杂的遗传和基因-环境相互作用，项目1和2建议，必须能够访问大量患者以及具有良好特征的样本和遗传数据，以便在单一数据库中进行分析。样本和临床数据必须高质量，以减少变异性。数据和样本的获取必须具有成本效益才能可行。患者资源核心的目的是招聘和 保留一组被诊断为系统性红斑狼疮或系统性硬化性硬化症或健康对照的患者进行临床和生物学研究。为了实现研究基地和其他未来调查人员发起的项目1和2以及未来项目的目标，这一群体是必要的。受试者将从南加州大学诊所招募。该核心将与SCTR生物医学信息学核心合作，开发一个 招募工具，从临床数据仓库中识别在临床就诊前诊断为SLE或SAC的患者。受试者也将从非专业组织和为这类患者提供服务的社区医生那里招募。一名全职研究协调员将招募和保留这些受试者，并从他们那里收集信息。收集的信息将包括人口、社会、环境、遗传和临床数据。创新将包括从MUSC临床数据仓库获得电子数据，并试点文本挖掘程序，从电子叙事报告(例如，进展记录、成像研究、超声心动图、心导管检查报告和活组织检查结果)中检索项目，以用于招募工具。数据将被输入红帽纵向电子数据库(一个现有的SLE数据库将移至红帽，并将创建一个新建立的SSC数据库)，以便项目1和2的调查人员和研究基地可以轻松检索到这些数据库。从SLE和SSC受试者获得的生物样本(血清、尿液、细胞、DNA、RNA和组织)将使用国家认可的标准操作程序进行存储^这些样本将被电子录入并进行跟踪，以便于检索以供研究。生物标本将链接到RedCap和电子病历数据库中的信息，以便在i2b2工作台中进行无缝查询。这种类型的综合数据将加快项目1和2中提出的基因和基因环境研究的进展。

PROJECT SUMMARY To study complex genetic and gene-environment interactions in heterogeneous diseases such as scleroderma (SSc) and systemic lupus erythematosus (SLE) as proposed in Projects 1 and 2, large numbers of patients and well characterized samples and genetic data must be accessible for analysis in a single database. Samples and clinical data must be of high quality to reduce variability. The acquisition of data and samples must be cost-effective to be feasible. The purpose of the Patient Resource Core is to recruit and retain a well characterized group of persons with the diagnosis of either SLE or SSc or healthy controls for clinical and biological studies. This population is necessary to carry out the aims of Projects 1 and 2 and future projects initiated by the research base and other future investigators. Subjects will be recruited from MUSC Clinics. The core will develop, in collaboration with the SCTR Biomedical Informatics Core, a recruitment tool that identifies, from the Clinical Data Warehouse patients with the diagnosis of SLE or Sac prior to the clinic visit. Subjects will also be recruited from lay organizations and from community physicians carrying for such patients. A full time study coordinator will recruit and retain these subjects and gather information from them. The collected information will include demographic, social, environmental, genetic, and clinical data. Innovations will include obtaining data electronically from the MUSC Clinical Data Warehouse and piloting a text-mining program to retrieve items from electronic narrative reports (e.g. progress notes, imaging studies, echocardiography, cardiac catheterization reports, and biopsy results) for a recruiting tool. Data will be entered into longitudinal REDCap electronic databases (an existing SLE database will be moved to REDCap and a newly constructed SSc database will be created) so that these can be retrieved easily by the Project 1 and 2 investigators and the research base. Biologic samples (serum, urine, cells, DNA, RNA, and tissue) obtained from the SLE and SSc subjects will be stored using nationally recognized standard operating procedures^ These specimens will be electronically entered and tracked to be readily retrievable for studies. The biologic; specimens will be linked to the information in the REDCap and electronic medical record databases for seamless queries in an i2b2 workbench. This type of integrated data will accelerate the progress of gene and gene-environment studies proposed in Projects 1 and 2.