NCL-network
The NCL-foundation pleads for the networking between the NCL scientists and encourages this e.g. by organizing the national congress. This network has a flexible structure in persistent development and expansion. A basic main focus of the foundation is particularly to gain new scientists from other research domains.
Members of the NCL-network (in alphabetical order - date 2007)
Prof. Dr. Thomas Braulke (www.uke.uni-hamburg.de)The laboratory of Prof. Braulke at the university hospital Hamburg- Eppendorf is involved with different forms of NCL. Focal points lie in the analysis of sorting-processes and functional analysis of the affected proteins. In April, 2004 the NCL-foundation has assigned a co-financed grant for the Ph D. student diploma-biochemist Sandra Pohl.
Dr Jonathan Cooper (http://neuroscience.iop.kcl.ac.uk/psdl)
Prof. Dr. Beverly L. Davidson (www.healthcare.uiowa.edu)
The Davidson laboratory in Iowa, USA showed that CLN3 is a lysosomal membrane protein and also how mutations within CLN3 alter protein trafficking and function. Using in vitro transcription and translation experiments, we have begun to unravel how the protein orientates itself within the lysosomal membrane. Additional experiments are underway to test if CLN3 associates with other lysosomal or non-lysosomal proteins. With the CLN3 animal model in hand, we are also determining if gene transfer of CLN3 to the brain restores neuron survival. The ultimate goal is to understand how an absence of CLN3 leads to neurodegeneration, and to test if gene replacement imparts protection to the degenerative phenotype.
Prof. Dr. Gert Fricker (http://www.uni-heidelberg.de/institute/fak14)Prof. Fricker is the head of the "Institut für Pharmazie und Molekulare Biotechnologie", Ruprecht-Karls-Universität Heidelberg. His fields of interest are the transport of pharmaceuticals through the blood-brain-barrier, proteins of transport, design and development of pharmaceuticals, drug-targeting.
Dr. Peter Geigle (www.cellmed.de)
Dr. Geigle was one of the founder of the concern CellMed AG, Alzenau. His specialization is the handling with human cells. He has worked in international acting Life Science companies.
Prof. Dr. Jefferey Gerst (www.weizmann.ac.il/molgen/members/gerst.html) His group is studying the mechanisms of endosomal protein sorting and delivery to the vacuole/lysosome. In particular, they use yeast as a model for Batten Disease, a severe neurodegenerative disorder that results from the aberrant accumulation of material in lysosomes. Their work suggests that mutations in the yeast orthologs of human Batten disease genes have specific defects in intracellular protein trafficking. Thus, yeast can serve as a simple tool to understand how Batten disease and related human lysosomal storage disorders occur.
Prof. Dr. Hans-Hilmar Goebel (http://www.klinik.uni-mainz.de/neuropathologie)
Professor of neuropathology of the Johannes Gutenberg-University in Mainz. Prof. Goebel has published numerous publications in the field of NCL. His main focus lies on electronmicroscopy combined with histological studies.
Prof. Dr. Christoph Hübner (www.charite.de)
Director of the pediatric clinic with main focus on neurology (Charite, Berlin). Children, who have neurological diseases, e.g. epilepsies, inflammatory or metabolic diseases of the central or peripheral nervous systems, neuromuscular Diseases, are examined in his clinic.
Prof. Dr. Anu Jalanko (www.ktl.fi)
Director of the Institute "Molecular Medicine" of the "National Public Health Institutes" in Helsinki, Finland. She is also coordinator of the European program "NCL-models", which currently comprises 9 different workgroups. This project will be funded for 3 years (2004-2006). Scientific focal points lie on the infantile, finnish late-infantile and juvenile NCL.
Prof. Dr. Alfried Kohlschütter (www.uke.uni-hamburg.de)
Professor of pediatrics at the children´s clinic, University of Hamburg. Scientific interest: degenerative and metabolic sufferings of the infantile nervous system.
Prof. Dr. Rudolf Martini (http://www.klinik.uni-wuerzburg.de/neurologie) Professor and chief of the department neuronal developmental biology within the faculty of neurology at the Julius-Maximilians-University in Würzburg. The laborator's main research is the activation and pathogenity of immune-related Cells regarding models of hereditary diseases, which affect the central and peripheral nervous system. At present the NCL-foundation is supporting a collaboration of Prof. Martini's and Dr. Cooper's laboratories, concerning immune cells in NCL-models.
Dr. Hannah Mitchison (www.ich.ucl.ac.uk/ich/academicunits/MMU/StaffList)
BA PhD Sara E. Mole (www.ucl.ac.uk)
Senior Lecturer in molecular genetics in the Royal Free and University College Medical School (London, Great Britain). Scientific fields of interest run in the identification of the affected genes and their characterisation (www.ucl.ac.uk/ncl). Current main focus: functional analysis of CLN3 and CLN6. Established model systems for CLN1 and CLN3 are the yeast Schizosaccharomyces pombe and the nematode Caenorhabditis elegans.
Dr. Martin Oheim (http://www.biomedicale.univ-paris5.fr/neurophysiologie/index.php) Astrocytes are the major glial cell type in the central nervous system and have extensive contacts with neurons, cerebral blood vessels and other types of glial cells. So far, the exact roles played by astrocytic lysosomal exocytosis in brain signaling and the regulatory mechanisms remain largely unknown. His group aims at investigating at the single-vesicle level the molecular mechanisms underlying astrocyte lysosomal exocytosis. Furthermore, the in vivo signficance in brain physio-pathology of lysosomal secretion from astrocytes will be studied using two-photon microscopy and a diversity of transgenic animal models.
Prof. PhD David Pearce (dbb.urmc.rochester.edu)
Leader of the largest American laboratory (University of Rochester School of Medicine and Dentistry, USA), which is busy with CLN3. Expertises are in the research of yeast and different mouse models. Furthermore, the influence of the proven autoantibodies against GAD65 is investigated.
Priv.-Doz. Dr. Ing. Harald H. Quick (www.uni-essen.de)
Leading physicist at the "Institut für Diagnostische und Interventionelle Radiologie und Neuroradiologie" of the academical hospital in Essen. The main focus lies in the field of medical imaging tools like magnetic resonance imaging (MRI). Dr. Quick and Dr. Schlamann are at the NCL-Foundation´s disposal for the evaluation of the possibilities of the MRI for diagnosis of NCL.
Dr. Mika O. Ruonala (http://www.cmp.uni-frankfurt.de/)
Prof. Dr. Klaus Rüther (www.charite.de)At the Humboldt-University, Berlin, Prof. Rüther compiles following main foci of research:
1. clinic: phenotyping of Retinitis pigmentosa and related diseases via electrophysiology and morphology. Further expertises are Neuroophtalmology and strabology.
2. functional and morphologic investigations of mouse strains with disturbances in the function of the retina and retina degeneration are made as well
aim: better understanding of the pathophysiology and the course as a requirement for the development of therapeutic strategies. Realisation of therapeutic trials in well characterised models
Prof. Dr. Paul Saftig (www.uni-kiel.de)
At the (Christian Albrecht Universität, Kiel, Germany) Prof. Saftig´s group researches the in vivo functions of the lysosomal membrane proteins LAMP-1, LAMP-2 and LIMP-2. Several mouse models are at the group´s disposal. One main focus is the investigation of autophagocytosis.
Prof. Dr. Konrad Sandhoff (www.chemie.uni-bonn.de)
Professor of biochemistry at the Kekulé-Institut of organic chemisty and biochemisty at the University Bonn. To his fields of interest count inter alia metabolism, enzymology and the molecular analysis of hereditary diseases.
Prof. Dr. Hans Schöler (www.mpi-muenster.mpg.de)
Professor Schöler is director at the Max Planck Institute for Molecular Biomedicine in Münster, and heads the Department of Cell and Developmental Biology. The aim of the research in the Department is to understand the mammalian germline at a molecular level. The germline contains two components: pluripotent cells and germ cells. One of the main questions addressed is how somatic cells or e.g. cells from umbilical cord blood can be converted into pluripotent cells. The investigations with cells from mice are in the experimental phase, and should in future add to efforts to convert such cells into organ-specific cells that will be accepted by a patient's immune system.
Robert Steinfeld, MD, PhD (www.paediatrie2.med.uni-goettingen.de)
Dr. Steinfeld works clinically and scientifically at the University clinic Göttingen. His field of interest is the cause and treatment options of ncl-diseases. Additionally, Dr. Steinfeld has a closer look at so far unresolved ncl-cases. In 2006 he discovered a new ncl-Form the so called Cathepsin D-deficiency or CLN10. Next to the diagnostics of ncl-diseases his laboratory analyses over 40 different lysosomal storage diseases.
Dr. Stephan Storch (www.uke.uni-hamburg.de)
Dr. Storch, University hospital Hamburg- Eppendorf, is busy with the molecular basics of the juvenile NCL. Main focuses are the identification of lysosomal sorting signals and the accordant routes of transport. Dr. Storch is supervising the certified biochemist Sandra Pohl, who has obtained a Ph. D. scholarship, given by the NCL-foundation, for the first year of her thesis. Via a mouse model she examines the molecular shifts during the pathogenesis of the juvenile NCL.
