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.
Polycystic kidney disease (PKD) and its complications have a significant effect on public health and health care utilization costs. Research supported by the Center grant has the potential to improve care of patients who have PKD and related disorders.
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