Resource-based Center for the Advancement of Precision Medicine in Rheumatology

项目摘要/摘要 加州大学旧金山分校基于资源的风湿病精确医学发展中心(第30页) 将提供极其重要的资源和专业知识，使尖端的风湿病研究成为可能。 鉴于正在出现的与精准医疗相关的机遇，与重要的 风湿性疾病所包含的异质性，我们的中心将专注于为 寻求通过以下方式确定风湿性疾病内部和跨疾病的潜在病因异质性的研究 应用作为精准医学领域激动人心的一部分而开发的新方法和技术。加州大学旧金山分校 为拟建P30中心提供理想环境，因为 免疫学、基因组学、分子技术、计算生物学和临床研究，包括 高危人群和种族/族裔少数群体的参与。此外，加州大学旧金山分校被公认为 风湿病患者的临床护理跨越年龄跨度，从儿童到老年。进一步的支持 投资我们中心的理由是加州大学旧金山分校可以利用的大量资源： 狼疮、类风湿性关节炎、血管炎、硬皮病、强直性关节炎的风湿病专科诊所 脊柱炎和儿童风湿病；美国国立卫生研究院资助的加州大学旧金山分校多学科临床研究中心 (NIAMS P60)和自身免疫卓越中心(NIAID ACE)；以及加州大学旧金山分校-斯坦福大学关节炎中心 太棒了。为了促进创新和协作的风湿病研究，我们的中心将包括：1) 由Patricia Katz博士和Jioos Yazdany博士共同指导的人类受试者和临床表型核心， 它将提供受试者招募、临床表型和临床数据的集中协调 收集和管理(例如，用于电子健康记录数据和报告的患者或医生 结果)；2)基因组学和分子资源核心，由郭培仁博士和林赛共同执导 Criswell，它将提供集中的生物菌种处理和存储，以方便访问更多 研究人员，并提供与基因组学和分子学获取相关的咨询和协调 表型服务；3)综合生物信息学核心，由Atul Butte博士和Marina共同指导 Sirota将为研究设计、生物信息学分析提供计算和分析专业知识 临床和分子数据、数据集成和数据传播；以及4)管理核心 由林赛·克里斯韦尔博士撰写，玛丽·中村博士担任副主任，其中包括一个浓缩项目 旨在通过提供试点拨款来吸引和支持年轻和有经验的调查人员， 辅导计划、教育研讨会和年度研讨会。这些资源将达到规定的 满足我们研究界的需求，并将对推动#年的精准医学研究产生重大影响 风湿病通过提供研究基础设施和咨询，生物检疫和定义 临床数据，以及尖端基因组学、分子和计算生物学工具。

PROJECT SUMMARY/ABSTRACT The UCSF Resource-based Center for the Advancement of Precision Medicine in Rheumatology (P30) will provide critically important resources and expertise to enable cutting-edge rheumatic disease research. Given the emerging opportunities related to precision medicine, in conjunction with the significant heterogeneity encompassed within the rheumatic diseases, our Center will focus on providing resources for research that seeks to define underlying etiologic heterogeneity within and across rheumatic diseases by applying new approaches and technology developed as part of the exciting field of precision medicine. UCSF represents an ideal environment for the proposed P30 Center given tremendous institutional strengths in immunology, genomics, molecular technologies, computational biology, and clinical research, including engagement of at-risk populations and racial/ethnic minorities. In addition, UCSF is recognized as a leader in clinical care of rheumatic disease patients across the age span, from childhood to old age. Further supporting the rationale for investing in our Center are the substantial resources that can be leveraged at UCSF: sub- specialty rheumatic disease clinics for lupus, rheumatoid arthritis, vasculitis, scleroderma, ankylosing spondylitis, and pediatric rheumatic disease; the NIH-funded UCSF Multidisciplinary Clinical Research Center (NIAMS P60) and Autoimmunity Center of Excellence (NIAID ACE); and the UCSF-Stanford Arthritis Center of Excellence. To facilitate innovative and collaborative rheumatic disease research, our Center will include: 1) a Human Subjects and Clinical Phenotyping Core co-directed by Drs. Patricia Katz and Jinoos Yazdany, which will provide centralized coordination of subject recruitment, clinical phenotyping, and clinical data collection and management (e.g., for electronic health record data, and patient or physician reported outcomes); 2) a Genomics and Molecular Resources Core, co-directed by Drs. Pui-Yan Kwok and Lindsey Criswell, which will provide centralized biospecimen processing and storage to facilitate access for more researchers and provide consultation and coordination related to acquisition of genomics and molecular phenotyping services; 3) an Integrative Bioinformatics Core, co-directed by Drs. Atul Butte and Marina Sirota, which will provide computational and analytical expertise for study design, bioinformatics analysis of clinical and molecular data, data integration and data dissemination; and 4) an Administrative Core directed by Dr. Lindsey Criswell, with Dr. Mary Nakamura as associate director, which includes an enrichment program designed to attract and support both young and experienced investigators through provision of pilot grants, a mentoring program, educational seminars, and an annual symposium. These resources will meet the stated needs of our research community and will have a major impact on advancing precision medicine research in rheumatology by providing access to research infrastructure and consultation, biospecimens with defined clinical data, and cutting-edge genomics, molecular, and computational biology tools.