Many laboratories around the world research into different aspects of Batten disease. This page provides a list of each, together with interests and contact details.
Laboratory | Interests |
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Dr Sara Mole MRC Laboratory for Molecular Cell Biology University College London Gower Street, London WC1E 6BT s.mole@ucl.ac.uk Tel: +44 207 679 7257 | Biology of CLN3 and CLN6 in mammalian cells |
Dr Jon Cooper Pediatric Storage Disorders Lab Department of Neuroscience, Institute of Psychiatry King's College London De Crespigny Park, London, SE5 8AF j.cooper@iop.kcl.ac.uk Tel: +44 207 784 80286 | Analysis of mouse and large animal models of NCL |
Dr Hannah Mitchison Department of Paediatrics and Child Health, The Rayne Building University College London University Street, London WC1E 6JJ h.mitchison@ucl.ac.uk Tel: +44 207 679 6109 | CLN3 mouse model |
Laboratory | Interests |
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Drs Lenka Dvorakova, Stan Kmoch, Helena Poupetova Institute of Inherited Metabolic Disorders First Faculty of Medicine, Charles University in Prague and General Faculty Hospital Prague, Czech Republic Tel: +1 420 224967689 ldvor@lf1.cuni.cz skmoch@lf1.cuni.cz hpoup@lf1.cuni.cz kostalova.eva@vfn.cz |
Diagnostics Linkage Exclusion of known genes Rare NCL families NCL cell lines |
Laboratory | Interests |
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Dr Anu Jalanko National Public Health Institute Biomedicum Dept. of Molecular Medicine P.O. Box 104, 00251 Helsinki anu.jalanko@ktl.fi Tel: +358 9 474 48392 | |
Prof Anna-Elina Lehesjoki Neuroscience Center and Folkhälsan Institute of Genetics, Biomedicum Helsinki P.O. Box 63, 00014 University of Helsinki anna-elina.lehesjoki@helsinki.fi Tel: +358 9 191 25072 | Molecular basis of EPMR Lipid metabolism in EPMR Biology of CLN8 in mammalian cells Genome-wide analysis of gene and protein expression in the mnd mouse model Biology of CLN8 in zebrafish Molecular genetics of Turkish variant LINCL |
Dr Jaana Tyynelä Institute of Biomedicine/Biochemistry P.O. Box 63, 00014 University of Helsinki jaana.tyynela@helsinki.fi |
Laboratory | Interests |
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Prof Thomas Braulke University of Hamburg UKE, Children's Hospital-Biochemistry Martinistr. 52, D-20246 Hamburg braulke@uke.uni-hamburg.de Tel: +49 40 42803 4493 | |
Dr Angela Schulz Department of Pediatrics University Medical Center Hamburg-Eppendorf Martinistr. 52, D-20246 Hamburg an.schulz@uke.uni-hamburg.de Tel: +49-40-42803-3710 / -3733 | Clinical scoring system for LINCL and JNCL and rare variants |
Dr Robert Steinfeld Department of Pediatrics Robert-Koch-Str. 40, 37075 Göttingen ncl@med.uni-goettingen.de Tel: +49-40-0551-398035 | Unusual variant NCLs particularly those caused by CTSD deficiency |
Dr Ottmar Distl Institute for Animal Breeding and Genetics University of Veterinary Medicine Hannover ottmar.distl@tiho-hannover.de | Linkage and gene identification for dog breeds with NCLs |
Laboratory | Interests |
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Dr Filippo Santorelli | Molecular and biochemical diagnosis of infantile, late infantile, variant late infantile, and juvenile forms of NCL Identification of novel genes in NCL |
Dr Alessandro Simonati University of Verona School of Medicine Department of Neurological and Visual Sciences Section of Neurology-Child Neurology and Psychiatry Unit Policlinico GB Rossi, Piazzale LA Scuro 1; 37134 Verona Tel: +39 0458074285/6 Fax: +39 045585933 alessandro.simonati@univr.it | Cell pathology of the disease - cytosome formation, energy failure & cell death pathways in CLN1 and CLN8 |
Laboratory | Interests |
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Dr Peter Taschner Department of Human Genetics Center for Human and Clinical Genetics Leiden University Medical Center Postal zone: S-4-P, P.O. Box 9600 2300 RC Leiden Tel: +31 71 5269424 Fax: +31 71 5268285 p.taschner@lumc.nl |
C. elegans models for NCL |
Laboratory | Interests |
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Dr Frode Lingaas Department of Basic Sciences and Aquatic Medicine Norwegian School of Veterinary Science P.O. Box 8146 Dep., N-0033 Oslo frode.lingaas@veths.no |
Dog models of disease |
Laboratory | Interests |
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Dr Fernando Rodrigues Assistant Professor University of Minho Life and Health Sciences Research Institute (ICVS) Campus de Gualtar 4710-057 Braga frodrigues@ecsaude.uminho.pt Tel: +351 253 604814 |
Yeast models: Pathological mechanisms in NCLs | Dr Lúcia Lacerda Instituto de Genética Médica Praca Pedro Nunes, 88 4099-028 Porto lucia.lacerda@insa.min-saude.pt Tel: +351 22 6070317 |
Clinical, morphological, biochemical and molecular study of all types of NCL Mutations in the Portuguese NCL population |
Laboratory | Interests |
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Dr Rosemary Boustany |
Laboratory | Interests |
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Berge Minassian |
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Eva Andermann |
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Frederick Andremann |
Laboratory | Interests |
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Prof Michael J Bennett University of Pennsylvania The Children's Hospital of Philadelphia Abramson Pediatric Research Center, 716G 3516 Civic Center Blvd, Philadelphia, PA 19104-4399 bennettmi@email.chop.edu Tel: +1 215 590 3394 Fax: +1 215 590 1998 |
Pathogenesis of CLN3 |
Dr Susan Cotman cotman@helix.mgh.harvard.edu |
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Dr Beverley Davidson beverly-davidson@uiowa.edu |
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Dr Glyn Dawson |
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Dr Adam Golabek a.golabek@att.net |
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Prof Sandra Hofmann |
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Dr Jonathan Mink University of Rochester School of Medicine and Dentistry 601 Elmwood Avenue, Rochester NY 14642 Jonathan_Mink@URMC.Rochester.edu Tel: +1 585 275 3669 Fax: +1 585 275 3683 |
Natural hisory and clinical progression of NCLs Clinical tools for evaluating NCLs |
Prof David A Pearce |
CLN3 Biology Yeast model for JNCL Mouse models for JNCL Pathological mechanisms in all NCLs Therapies for NCLs |
Drs David E Sleat and Peter Lobel Center for Advanced Biotechnology and Medicine Rutgers 679 Hoes Lane Piscataway, NJ 08854 sleat@cabm.rutgers.edu Tel: +1 732-235-5028 Fax: +1 732-235-4466 |
NCL lysosome biology NCL lysosome proteomics |
Laboratory | Interests |
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Prof. Dra. Inés Noher de Halac Centro de Estudio de las Metabolopatías Congénitas (CEMECO) Cátedra de Clínica Pediátrica, Facultad de Ciencias Médicas Universidad Nacional de Códoba Hospital de Niños Ferroviarios 1250, 5014 Córdoba rhalac@arnet.com.ar Tel. +54 351 4575974 |
Clinical, morphological, biochemical and molecular study of all types of NCL Mutations and DNA changes in Latin-American NCL population Possible new phenotype/genotype correlations Adult NCL |
Laboratory | Interests |
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Dr Imke Tammen itammen@camden.usyd.edu.au |
Large animal models for NCL |
Dr Samuel Berkovic |
Adult NCL, especially autosomal recessive |
Laboratory | Interests |
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Dr David Palmer palmerd@lincoln.ac.nz |
Large animal models for NCL![]() |
Dr Stephanie Hughes |
CLN5 and CLN6 variant late infantile NCL, gene and drug therapies, mouse and sheep models |
Laboratory | Interests |
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Dr Junjo Ezaki Department of Biochemistry Juntendo University School of Medicine 2-1-1, Hongo, Bunkyo-ku Tokyo 113-8421 jezaki@med.juntendo.ac.jp |