ADPKD Mutation Database
Peter Harris, Ph.D., Database Director
Supported by the PKD Foundation
The Autosomal Dominant Polycystic Kidney Disease (ADPKD) Database (PKDB) has been established to facilitate the characterization of ADPKD variants in PKD1 and PKD2, the two genes known to have mutations causative of ADPKD. It is a repository for all variants in these genes, whether likely disease-causing or not. The PKDB displays the most comprehensive listing of all published PKD1 and PKD2 mutations and includes the silent polymorphisms described to date. Information on the PKDB should be used for research purposes only.
More information about the PKDB is available at: http://pkdb.mayo.edu/
Electron Microscopy Core
Vince Gattone, Ph.D., Program Director
Supported by the PKD Foundation
The Electron Microscopy Core for PKD Research utilizes the Electron Microscopy Center of Indiana University School of Medicine, under the direction of an experienced electron microscopist and PKD researcher, Dr. Vincent Gattone. This core is dedicated to facilitate research on polycystic kidney disease and other hepatorenal fibrocystic diseases and is well equipped to handle most electron microscopy needs. Services are provided at a significant discount because the costs are underwritten by the PKD Foundation.
More information about the Electron Microscopy Core for PKD Research is available at
http://www.anatomy.iupui.edu/PKD/index.htm
For access to a research project application form, go to
http://www.anatomy.iupui.edu/PKD/Project%20Application.doc (DOC).
Johns Hopkins PKD Core Center
Supported by NIDDK and Johns Hopkins School of Medicine
The Johns Hopkins Polycystic Kidney Disease (PKD) Research and Clinical Core Center is founded on a tradition of innovative PKD research at Johns Hopkins. The goal of the Center is to promote translational PKD research by providing unique resources and expertise to an international group of investigators.
Biomedical Cores
Core B: Antibody Validation and Vectorology Core
Core C: Mouse Models and Biobank
Core D: Cell Culture and Engineering
Core E: Clinical and Translational Core Resource
Educational Programs
The Center offers educational enrichment programs that strive to encourage critical thought which will yield creative approaches to research questions related to cystic kidney diseases.
Pilot and Feasibility Program
The Pilot and Feasibility Program can support up to three new projects per year. In selecting projects preference is given to innovative lines of inquiry, junior investigators, and new investigators in the PKD field.
Join our Research Base
To become a member of our research base, contact Center Administrator, Karleen Schuhart to submit biosketch.
Center Director: Terry Watnick, M.D.
Center Co-Director: William Guggino, Ph.D.
Center Administrator: Karleen Schuhart
More information about the JH PKD Core Center at http://jhu.edu/pkd
Knockout Mouse Project
Supported by NIH
NIH has provided funding to establish and support a repository for its Knockout Mouse Project (KOMP). This is part of a $50 million trans-NIH initiative to increase the availability of genetically-altered mice and related materials. The University of California, Davis (UC Davis) and Children’s Hospital Oakland Research Institute (CHORI) in Oakland, California, will collaborate to preserve, protect and make about 8,500 types of knockout mice and related products available to the research community.
More information about the KOMP resources is available at http://www.komp.org/.
Mayo Translational PKD Center
Supported by NIDDK
The Mayo Translational PKD Center focuses on translating basic science research findings into new and better treatments that imporve the care of patients with PKD.
Molecular Genetics and Proteomics
Provides specialized services in support of research and clinical trials related to autosomal dominant polycystic kidney disease (ADPKD) to investigators worldwide. These services include:
Mutation screening of large typical ADPKD populations
Mutation screening of cell lines derived from ADPKD patients
Genetic Screening of atypical PKD families
Urine collection and fractionation
Director: Peter C. Harris, Ph.D.
http://mayoresearch.mayo.edu/mayo/research/pkd-genetics-proteomics-core/
Model Systems
Develops and makes available PKD model systems and technologies, which are used to evaluate potential therapies and determine the function of PKD proteins. These include:
C. elegans PKD-targeted services
Rodent PKD-targeted services
Zebrafish PKD-targeted Services
Director: Miahael F. Romero,, Ph.D.
http://mayoresearch.mayo.edu/mayo/research/pkd-model-systems-core/
Human Imaging
Provides two imaging services to assess and catalog PKD progression or regression.
Imagain data management: Facilitates the transmission, collection and storage of anonymized imaging data used in translational PKD research, and provides a system that enables PKD researchers around the United States to exchange images.
Image Analysis: of semi-automatic magnetic resonance (MR) and computed tomography (CT) image and volumetric analyses of polycystic kidneys and liver, as well as functional assessment of the kidney and heart (including measurements fo renal blood flow).
Director: Bernard F. King, M.D.
http://mayoresearch.mayo.edu/mayo/research/pkd-human-imaging-core/
More information about the Mayo Translational PKD Center at http://mayoresearch.mayo.edu/polycystic-kidney-desease-center
PKD Tissue Repository and Biomaterials Resource Core
Director: Darren P. Wallace, PhD
Supported by NIH
The PKD Tissue Repository and Biomaterials Core is located in the Kidney Institute at the University of Kansas Medical Center, and is funded by the National Institutes of Health to generate unique human reagents for PKD investigators. Biomaterials that are offered by the core include fixed and frozen tissue, cyst fluid, and primary cells isolated from the cysts of discarded human PKD kidneys. The core also generates biological materials from animal models of PKD.
More information about the PKD Tissue Repository and Biomaterials Resource is available at http://www2.kumc.edu/ki/wallace.htm.
UAB Hepato/Renal Fibrocystic Disease Core Centers
Core A: ARPKD Clinical and Genetic Resource
Director: Lisa M. Guay-Woodford, MD
Co-Directors: Ludwine Messiaen, PhD (Director, UAB Medical Genomics Lab)
Gary Cutter, PhD. (Head, UAB Biometry and Clinical Trials)
Website
Core B: Engineered Mouse Resource
Director: Bradley K. Yoder, PhD
Co-Director: Robert Kesterson, PhD (Director, UAB ESC/Transgenic Core)
Website
Core C: Cellular Physiology Resource
Director: P. Darwin Bell, PhD
Website
Core D: Tissue Characterization and Immunoreagent Resource
Director: Joanne Murphy-Ullrich, PhD (Director, UAB CAMRC)
Co-Directors: Gene P. Seigal, MD, PhD
Mary Ann Accavitti-Loper, PhD (Director, UAB ERIC)
Website
Core E: Proteomics Resource
Director: Helen Kim, PhD (Co-Director, UAB Proteomics/Mass Spectrometry Core)
Co-Director: Stephen Barnes, PhD (Co-Director, UAB Proteomics/Mass Spectrometry Core)
Website
More information about the UAB Recessive Kidney Disease Core Centers is available at http://www.rpkdcc.uab.edu/.
UT Southwestern O'Brien Kidney Research Core
Supported by NIH
The overall goal of the Center is to support research in the areas of kidney development and genetics, renal physiology and chronic kidney disease that is conducted at UT Southwestern, neighboring institutions in North Texas and the greater nephrology community in the U.S. and worldwide. The specific aims are to generate new animal models to study the pathogenesis and treatment of human kidney diseases and their cardiovascualr complications, accelerate the clinical application of discoveries made in renal basic science laboratories and provide investigators with spcialized tools and expertise to study kidney development, physiology and pathophysiology. To achieve these aims, the UT Southwestern O'Brien Kidney Research Center comprises four biomendical research cores: animal models, physiology, cell biology and pathology and clinical and translational.
More information about the UT Southwestern O'Brien Kidney Research Core Center at http://www4.utsouthwestern.edu/nephrology/obrien
National Disease Research Interchange (NDRI)
Supported by NIH
For 28 years NDRI has been a major source of human biomaterials for approved research studies, providing scientists with high quality customized biomaterials for use in studies to understand human disease. Funded by NIH, NDRI is a not-for-profit organization that places around 20,000 normal and diseased tissues each year with researchers in academia and the biomedical and pharmaceutical industries.
More information about NDRI is available by calling 800-222-NDRI (6374) or at www.ndriresource.org.