Mayo Translational PKD Center (MTPC)

梅奥转化PKD中心（MTPC）的长期使命是开发核心设施，以支持梅奥和非梅奥研究人员现有的和刺激新的PKD研究，并促进基础研究突破转化为临床实践的改进。拟议的中心核心（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）建立在梅奥PKD研究人员的现有优势之上。分子遗传学和蛋白质组学核心将通过直接测序提供PKD1和PKD2突变筛查服务，以表征大型ADPKD群体，特别是那些参与临床试验的群体，并表征患者来源的细胞系，以增加其对PKD社区的价值；将促进非典型ADPKD患者的研究，包括样本收集、突变筛查（包括PKD1和PKD2以外的基因）和连锁分析，在适当的情况下；将通过促进尿液样本的收集、分离和验证，为未来的蛋白质组学和RNA表达分析提供补充。发展项目将加强这些服务。模型系统核心将提供PKD模型系统（秀丽隐杆线虫、斑马鱼和啮齿动物）和广泛的成像和生理学技术，以评估潜在的治疗方法，确定PKD蛋白的功能，并将实施一个强大的发展计划。人类成像核心将促进传输，收集和存储成像数据用于翻译PKD研究；提供最先进的分析工具，用于多囊肾脏和肝脏的半自动化容量分析，以及肾脏和心脏的功能评估，包括肾血流量的测量；并开发增强或新的方法，以促进基础PKD研究发现转化为临床实践。这些核心设施的组合将强有力地发挥作用。促进合作，多学科，转化PKD研究，扩大梅奥和非梅奥PKD研究人员的技术和协作能力；ii)吸引其他学科的优秀研究者参与PKD研究；iii)。快速检测PKD的潜在治疗方法，并促进其进入临床领域；iii)。促进PKD研究基地与梅奥PKD研究人员的临床研究专业知识之间的协同互动；iv.)制定和实施一个强大的、多样化的科学充实计划，包括研讨会、讲习班、专题讨论会、访问教师计划和基于网络的课程；诉)通过严格的同行评审，广泛宣传试点和可行性计划，确定和培养新的PKD研究人员的发展。为了创造和促进这样一个互动和富有成效的环境，该中心将利用梅奥的独特优势，包括在pkd相关研究方面的卓越成就、庞大且特征鲜明的患者群体、杰出的人口科学、临床试验的传统和机构资源。该中心的全球努力将通过大量机构资源得到加强，包括转化科学活动中心（CTSA）拨款（与NIH肾病培训拨款），以及互补的机构核心，包括基因组学资源中心、蛋白质组学研究中心、比较医学系、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、高等影像研究中心、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，该中心的拨款将加强和扩大合作交叉点和临界质量的科学家解决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 PKD1 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 PKD1 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.