Mayo Translational PKD Center (MTPC)

梅奥翻译PKD中心(MTPC)的长期使命是开发核心设施，以支持 现有并鼓励梅奥和非梅奥调查人员进行新的PKD研究，并促进将 基础研究在临床实践中的改进方面取得突破。建议的中心核心(分子 遗传学和蛋白质组学核心、模型系统核心和人类成像核心)建立在现有优势的基础上 在梅奥的库尔德工人党调查员。分子遗传学和蛋白质组学核心将提供突变筛选 通过直接测序鉴定大量ADPKD人群的PKD1和PKD2服务，尤其是那些 参与临床试验，并鉴定患者来源的细胞系，以增加它们对PKD的价值 社区；将促进对非典型ADPKD患者的研究，并包括样本收集、突变 筛查(包括PKD1和PKD2以外的基因)，并酌情进行连锁分析；这将是补充 通过促进尿样的收集、分离和验证为未来的蛋白质组学而进行的遗传学研究 和RNA表达分析。这些服务将通过发展项目得到加强。模型 系统核心将提供PKD模型系统(线虫、斑马鱼和啮齿动物)和广泛的 评估潜在治疗和确定PKD蛋白功能的成像和生理学技术 并将实施强有力的发展规划。人体成像核心将促进传输， 收集和存储用于翻译性PKD研究的成像数据；提供最先进的分析 多囊肾和肝的半自动容量分析和功能评估的工具 肾脏和心脏，包括测量肾脏血流量；并开发改进的或新的方法 这有助于将PKD的基础研究成果转化为临床实践。这两种技术的结合 这些核心设施将有力地促进。)促进协作、多学科、翻译性的PKD研究并扩展 现有Mayo和非Mayo PKD调查员的技术和协作能力；二)吸引 来自其他学科的有才华的调查人员参与PKD研究；3.)可能的治疗方法的快速分析 促进将其引入临床领域；3.)促进两国之间的协同互动 研究PKD基础和Mayo PKD研究人员的临床研究专长；开发和实施 一个强大的、多样化的科学丰富计划，包括研讨会、研讨会、座谈会、访问教员 方案和基于网络的课程；以及，v.)确定和培养新的PKD调查人员通过 严格的同行评审，广泛宣传的试点和可行性计划。创造和培育这样一种 互动和富有成效的环境，中心将利用梅奥的独特优势，包括卓越的 与PKD相关的研究，庞大而有特色的患者群体，杰出的人口学， 临床试验的传统和机构资源。该中心的全球努力将得到实质性的加强 机构资源，包括翻译科学活动中心(CTSA)赠款(与NIH 肾脏疾病培训补助金)，以及包括基因组学资源在内的补充机构核心 比较医学系蛋白质组学研究中心，斑马鱼核心设施，转基因 和基因敲除核心设施，医学成像信息学创新中心，先进成像中心 研究、生物医学影像研究实验室、CT临床创新中心、贡达血管 中心。最终，中心赠款将增强和扩大协作交叉点和临界质量 科学家致力于PKD研究。

The long-term mission of the Mayo Translational PKD Center (MTPC) is to develop Core facilities to support existing and stimulate new PKD research by Mayo and non-Mayo investigators and to facilitate the translation of basic research breakthroughs into improvements in clinical practice. The proposed Center Cores (Molecular Genetics and Proteomics Core, Model Systems Core, and Human Imaging Core) build on the existing strengths of the PKD investigators at Mayo. The Molecular Genetics and Proteomics Core will offer mutation screening services of PKDl and PKD2 by direct sequencing to characterize large ADPKD populations, especially those involved in clinical trials, and to characterize patient-derived cell lines to increase their value to the PKD community; will facilitate the study of atypical ADPKD patients and include sample collection, mutation screening (including genes beyond PKDl and PKD2), and linkage analysis, where appropriate; will complement the genetic studies by facilitating the collection, fractionation, and validation of urine samples for future proteomic and RNA expression analysis. These services will be augmented by developmental projects. The Model Svstems Core will make available PKD model systems (C. elegans, zebrafish, and rodent) and a wide range of imaging and physiology technologies to evaluate potential therapies and ascertain the function of PKD proteins and will implement a strong developmental program. The Human Imaging Core will facilitate the transmission, collection, and storage of imaging data utilized in translational PKD research; provide state of the art analytic tools for semi-automated volumetric analysis of polycystic kidneys and liver and for functional assessment of the kidneys and heart including measurements of renal blood flow; and develop enhanced or new methodologies that facilitate the translation of basic PKD research discoveries into the clinical practice. The combination of these Core facilities will strongly i.) Foster collaborative, multidisciplinary, translational PKD research and expand the technical and collaborative capabilities of established Mayo and non-Mayo PKD investigators; ii) Attract talented investigators from other disciplines into PKD research; iii.) Speed assays of potential treatments for PKD and facilitate their introduction into the clinical arena; iii.) Promote synergistic interaction between the Research PKD Base and the clinical research expertise of Mayo PKD investigators; iv.) Develop and implement a robust, diverse Scientific Enrichment Program that includes seminars, workshops, symposia, a visiting faculty program, and Web-based curricula; and, v.) Identify and nurture development of new PKD investigators via a rigorously peer-reviewed, widely publicized Pilot and Feasibility Program. To create and foster such an interactive and productive environment, the Center will use Mayo's unique strengths, which include excellence in PKD-related research, large and well-characterized patient populations, outstanding population sciences, tradition in clinical trials, and institutional resources. The Center's global efforts will be enhanced by substantial institutional resources that include a Center for Translational Science Activities (CTSA) grant (with a NIH Training Grant in Kidney Diseases), and complementary institutional cores that include the Genomics Resource Center, Proteomics Research Center, Department of Comparative Medicine, Zebrafish Core Facility, Transgenic and Gene Knockout Core Facility, Medical Imaging Informatics Innovation Center, Center for Advanced Imaging Research, Biomedical Imaging Research Laboratory, CT Clinical Innovation Center, and Gonda Vascular Center. Ultimately, the Center grant will enhance and expand the collaborative intersections and critical mass of scientists addressing PKD research.