Patient Resource Core

项目摘要 为了研究复杂的遗传和基因-环境相互作用的异质性疾病，如硬皮病（SSc）和系统性红斑狼疮（SLE）的项目1和2中提出的，大量的患者和良好的表征样品和遗传数据必须在一个单一的数据库中进行分析。样本和临床数据必须是高质量的，以减少变异性。数据和样本的获取必须具有成本效益才可行。患者资源核心的目的是招募和 保留一组诊断为SLE或SSc或健康对照的良好特征人群进行临床和生物学研究。这些人口对于实现项目1和2以及研究基地和其他未来研究人员发起的未来项目的目标是必要的。将从MUSC诊所招募受试者。该核心将与SCTR生物医学信息学核心合作， 招募工具，用于在临床访视前从临床数据仓库中识别诊断为SLE或Sac的患者。还将从非专业组织和为此类患者提供服务的社区医生中招募受试者。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统计学、社会、环境、遗传和临床数据。创新将包括从MUSC临床数据仓库以电子方式获取数据，并试行文本挖掘程序，以从电子叙述报告（例如，进展记录，成像研究，超声心动图，心导管插入术报告和活检结果）中检索项目，用于招募工具。将数据输入纵向REDCap电子数据库（现有SLE数据库将移至REDCap，并创建新构建的SSc数据库），以便项目1和2研究者和研究基地可以轻松检索这些数据。从SLE和SSc受试者获得的生物样品（血清、尿液、细胞、DNA、RNA和组织）将使用国家认可的标准操作规程储存。这些标本将以电子方式输入并跟踪，以便易于检索用于研究。生物;样本将链接到REDCap和电子病历数据库中的信息，以便在i2 b2工作台中进行无缝查询。这种类型的综合数据将加速项目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.