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Active NCL Network

Collaborations initiated by the NCL Foundation


Since its establishment in 2002, the NCL Foundation attempts to close research gaps through targeted start-up financing. Scientific meetings with focus on changing topics are organized by the NCL Foundation. They account to indirect measures with the goal to improve the research networking. These events are used as platform to exchange results as well as innovative research ideas and as basis for new collaborations. The arising research projects are partially supported with start-up funds in form of Ph.D. scholarships.


Moreover, the NCL Foundation directly links research groups on a one-to-one basis. The current intermediate results (August 2013) show that the NCL Foundation was able to launch around 40 new research collaborations since 2002. The majority of the newly established cooperations are university groups (66 %). Collaborations between university groups and research institutes or researching companies, respectively, each account for 17 %. 


The exchange with other non-profit NCL organizations as well as training programs for doctors, students, and pupils are further indirect measures to improve the research networking.


Members of the NCL Network (in alphabetical order - date 2013)

Prof. Dr. Ralf Baumeister (Homepage)


Professor at the Albert-Ludwigs-University, Freiburg (Breisgau). Research: development of animal models for functional analysis of genes. Main focus: neurodegenerative diseases (Alzheimer, Parkinson, hearing loss and newly NCL). Prof. Baumeister is represented in the European program APOPIS (Abnormal proteins in the pathogenesis of neurodegenerative disease) with an own NCL-project.



Prof. Dr. Thomas Braulke (Homepage)


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.

Prof. Dr. Jonathan Cooper (Homepage)


Prof. Dr. Jonathan Cooper leads the Pediatric Storage Disorders Laboratory (PSDL) at the Institute of Psychiatry, King's College London. The main focus of the lab is in understanding where, when and how the brain is impacted by disease in multiple forms of NCL. This involves systematic stereological analysis of neuropathology the different mouse (and sheep) models of NCL comparing these findings to data from human NCL. These studies provide detailed landmarks of disease progression that can also be used to judge whether potential therapies Further information about work in the PSDL can be found at .

Dr. Susan L. Cotman (Homepage)


Dr. Cotman is a partner in the Community program NCL disease, a clinical and translational research program within the Center for Human Genetic Research at the Massachusetts General Hospital. The Cotman laboratory specializes in genetic and cell biological research and its goal is to describe the first occurrences which are caused by a genetic defect NCL. Exact genetic models were established for early detection as well as for drug screening and for pre-clinical drug development. Among developed NCL models there are both the Cln3ex7/8-mice, which will carry the common mutation described in NCL patients and now in widespread use, as well as newer model systems, such as human induced pluripotent stem cells (iPS cells) for several NCL forms.


Prof. Dr. Ronald G. Crystal (Homepage)


Dr. Crystal is a professor in the department of genetic medicine at Weill Medical College of Cornell University in New York. His research focuses on gene therapy and personalized medicine. The development of therapies for paediatric neurodegenerative diseases, particularly lysosomal metabolic diseases, is one of its biggest areas of research. Using the late-infantile NCL (caused by mutations in the CLN2 gene as a model, his lab was able to develop a strategy for the treatment of CNS manifestations in these diseases). Studies with multiple animal models have supported the initiation of clinical trials with NCL patients.


Prof. Dr. Beverly L. Davidson (Homepage)

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 (Homepage)


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. Bruno Gasnier (Homepage)


 Dr. Bruno Gasnier works in the field of biochemistry, molecular biology and neuroscience at the University of Paris Descartes (Paris, France). His team is interested in the compartmentalisation of metabolites and signalling molecules in animal cells and tissues by ion-coupled membrane transporters. They focus on the loading of synaptic vesicles with neurotransmitters as well as in the export of metabolites from the lysosomes and its malfunction in lysosomal diseases, including NCL. They are currently investigating several lysosomal transporters at various levels. 


Prof. Dr. Jeffrey Gerst (Homepage)


His group is studying the mechanisms of endosomal protein sorting and delivery to the vacuole/lysosome in Rehovot, Israel. 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 (Homepage)

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.





PD Dr. Guido Hermey (Homepage)


Dr. Guido Hermey is a lecturer at the University Hospital Hamburg-Eppendorf, Institute for Molecular and Cellular Cognition. His research focuses on the functional role of activity-regulated genes in learning and memory as well as on a variety of neuronal diseases, including neurodegeneration. Dr. Hermey leads researchers who identify and study activity-regulated genes and their role in synaptic plasticity. Furthermore, they are interested in sub-cellular transport processes in neurons and the influence on neuronal mis-sorting of proteins in neuronal diseases. They are studying the function of CLN3 and its interaction partners in this context.


Prof. Dr. Anu Jalanko (Homepage)

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 (Homepage)

Professor of pediatrics at the children´s clinic, University of Hamburg. Scientific interest: degenerative and metabolic sufferings of the infantile nervous system.





Prof. Dr. Carsten Korth (Homepage)


Dr. Carsten Korth is a Professor at the Institute of Neuropathology at the University of Düsseldorf Hospital. His team is working on the defective assembly, folding or processing of proteins and the development of pharmacotherapies to impair or prevent these protein pathologies. The focus is on neurobiology and protein chemistry. The production of (mis)assembled proteins is researched in the production, detection and degradation phase as well as in in vivo and in in vitro models.



Prof. Dr. Thomas Langmann (Homepage)


Dr. Thomas Langmann is a professor at the department of “Experimental Immunology of the Eye” at the University of Cologne Hospital. His team is concerned with the immunological results from retinal degeneration – a main symptom of NCL – especially the activation of microglia cells. Three different mouse models for CLN1, CLNf3 and CLN6 are now being investigated with regard to visual acuity using non-invasive optokinetic and electrophysiological tests. These parameters are combined with comprehensive histological studies to estimate the effect of microgliosia and Müller cell gliosis on the development of retinal degeneration in NCL models.


Dr. Stephane Lefrancois (Homepage)


Dr. Lefrancois’ reserach is of the regulation of intracellular sorting and transport processes with a focus on the monitoring of the sorting through the trans-Golgi network and endsomes. The model they study is the lysome sorting receptor CI-MPR and Sortilin. Recently they discovered that CLN5 is a key regulator in the intracellular sorting via the endosome. Right now they are working on understanding the molecular details of how CLN5 monitors the activity of the small GTPase Rab7 and the recruitment of retromer, a protein complex that is used for sorting the endosome to Golgi from CI-MPR and Sortilin.


The laboratory uses a number of techniques such as acquisition and analysis of images with high image content, confocal microscopy, BRET (“bioluminescence resonance energy transfer“) and various ways to study post-translational modifications such as palmitoylation and ubiquitination.


Prof. Dr. Rudolf Martini (Homepage)


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 (Homepage)


At UCL Institute of Child Health in London Dr. Mitchison has a long-standing interest in the molecular genetic analysis of the NCLs with special focus on knockout mice for analysis of CLN3 protein function. A major focus on autophagic mechanisms in the NCLs, and new research into the basis of retinal cell death in CLN3 disease. 



BA PhD Sara E. Mole (Homepage)

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 ( 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 (Homepage)


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 in Paris. 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. MD John R. Østergaard (Homepage)


John R. Østergaard is a professor of Neurology at the Aarhus Paediatric University Hospital in Denmark. He is chief physician for all Danish patients with NCL diseases and medical member of a nationwide multidisciplinary team that supervises all aspects of NCL. His main scientific interests are rare genetic diseases, genotype-phenotype correlations and neurodegenerative diseases, including aspects of NCL.




Prof. PhD David Pearce (Homepage)

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.





Dr. Mika O. Ruonala (Homepage)


By combining novel methods of biochemistry, molecular biology and biophysics we aim to the discovery of the function of the CLN3 protein at its physiological state. Using novel tagging technologies we have generated reliable imaging tools which allow us to investigate the localization, properties and lifetime of CLN3 in living cells and tissues. These tools are also applicable for biochemical determination of the interaction partners of CLN3 in combination with mass-spectrometry, and the location of the found interacting partners are verified with state-of-the-art FRET-FLIM microscopy. Once we have a good understanding about the function of the CLN3 we will apply similar approaches to investigate the properties and behaviour of the diseased form of the CLN3. A recently initiated project aims to determine the changes in the molecular networks in the JNCL mouse model. This novel imaging technology is able to resolve the amount and localization of any given number of proteins in the same tissue or cell sample with high accuracy. Using the toponomics approach the abnormal behaviour of 'lead' protein, lipid or carbohydrate components will be exposed and will reflect the initial changes in the proteomic landscape that eventually lead to the acceleration of the JNCL. The generated information can be used to guide the design and monitoring of the effects of future therapeutic approaches.


Prof. Dr. Paul Saftig (Homepage)

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 (Homepage)

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 (Homepage)

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. 


Dr. Alessandro Simonati (Homepage)


Dr. Alessandro Simonati is an associate professor of neurology in the Department of Neurological and Movement Sciences at the Medical College of the University of Verona in Italy. He is director of the Paediatric Neurology and Psychiatry and the Department of Developmental Neuropathology. His research interests lie in childhood neurodegenerative diseases and the development of neuropathology. His current research activities focus on neuronal ceroid lipofuscinosis. This research is used for both clinical studies as well as for disease development studies in vitro systems (human fibroblasts from patients NCL and genetically modified, human neuroblastoma cell lines). His research focuses on the phenotypic characteristics of the so-called late - infantile NCL variants as well as the process of autophagy and mitochondrial function with selected NCL forms. Current studies were financed by the "European Union Seventh Framework Program".


Prof. Dr. Dr. Robert Steinfeld (Homepage)


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 (Homepage)

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.


Prof. Guy Tear (Homepage)


Professor Guy Tear works at the MRC Centre for Developmental Neurobiology at King's College in London. His research group uses Drosophila as a model system to attempt to understand the gene function during development disease processes. They study the normal role of CLN3 and CLN, with particular interest in its role at the synapse. Through these studies, they hope to understand the processes that need these proteins and to identify new therapeutic approaches.


Dr. Steven U. Walkley (Homepage)


Dr. Walkley is a professor of neuroscience, pathology and neurology and director of the Rose F. Kennedy "Intellectual and Developmental Disabilities Research Center" at the Albert Einstein College of Medicine (New York, USA). His research efforts are focused on describing pathogenic cascade, brain malfunctions in lysosomal diseases, including NCL, Niemann-Pick, Sandhoff, MLIV, MPS IIIA and related diseases. Of particular interest is the understanding of the changes in endocytic, autophagic and metabolic pathways that are induced by lysosomal diseases, and their influence on dendritic and neuronal integrity. Dr. Walkley’s laboratory is also at the forefront in the development of treatments for lysosomal diseases, including pioneering studies in the use of bone marrow transplantation, and substrate reduction therapies.

This German - English translation was done by the translators Tizzy Mann, Andrea Murphy, Kate Humby and Marcia Neff for the PerMondo initiative that involves providing free translations for NGOs. PerMondo is sponsored and run by the translation agency Mondo Agit.