NCL resource

Research laboratories

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.

Europe

United Kingdom

Laboratory	Interests
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 Biology of CLN3/btn1 and CLN1/ppt1 in the fission yeast model Linkage and gene identification for rare NCLs - Variant LINCL; Variant JNCL; Adult onset NCL Model organism candidate gene analysis
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 Assessment of therapeutic efficacy in mouse models of NCL Human NCL pathology
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 Mechanisms of cell death

The Czech Republic

Laboratory	Interests
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

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

Finland

Laboratory	Interests
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

Germany

Laboratory	Interests
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 MRI studies in all NCL types Neuropsychological testing of JNCL patients Gene identification for rare NCLs
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 Complete diagnostic work-up of NCL including biochemical, molecular genetics and electron microscopic investigations Study on the natural course of CLN2 and CLN3 disease monitored by clinical scoring, brain MRI and neuropsychological testing
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

Italy

Laboratory	Interests
Dr Filippo Santorelli Molecular Medicine and Neurology IRCCS Bambino Gesù Hospital Piazza S. Onofrio, 4; 00165 Rome Tel: +39 0668592104 fms3@na.flashnet.it	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 Identifcation of novel genes for vLINCL and adult NCL/Kufs

The Netherlands

Laboratory	Interests
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

Norway

Laboratory	Interests
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

Portugal

Laboratory	Interests
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

Lebanon

Laboratory	Interests
Dr Rosemary Boustany rb50@aub.edu.lb

North America

Canada

Laboratory	Interests
Berge Minassian Division of Neurology, The Hospital for Sick Children Toronto, Canada berge.minassian@sickkids.ca
Eva Andermann Neurogenetics Unit, Montreal Neurological Hospital & Institute Departments of Neurology & Neurosurgery and Human Genetics McGill University, Montreal, Canada eva.andermann@mcgill.ca
Frederick Andremann Epilepsy Service and Seizure Clinic Departemns of Neurology & Neurosurgery and Human Genetics McGill University, Montreal, Canada frederick.andermann@mcgill.ca

USA

Laboratory	Interests
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
Dr Beverley Davidson beverly-davidson@uiowa.edu
Dr Glyn Dawson The University of Chicago 5841 South Maryland Avenue, WP C490 (MC 4068) Chicago, Illinois 60637 dawg@midway.uchicago.edu Tel: +1 773 702 6430 Brain Lipids Lab
Dr Adam Golabek a.golabek@att.net
Prof Sandra Hofmann Division of Hematology/Oncology University of Texas Southwestern Medical Center 5323 Harry Hines Boulevard Dallas, Texas 75390-8593 sandra.hofmann@UTsouthwestern.edu Tel: +1 214-648-4911
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 Director Sanford Children's Health Research Center Sandford Research USD Department of Pediatrics Sanford School of Medicine of the University of South Dakota 2301 East 60th Street North Sioux Falls SD 57104-0589 David.Pearce@SanfordHealth.org Tel: +1 605 312 6004 Fax: +1 605 312 6071	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

South America

Argentina

Laboratory	Interests
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

Australasia

Australia

Laboratory	Interests
Dr Imke Tammen itammen@camden.usyd.edu.au	Large animal models for NCL
Dr Samuel Berkovic Epilepsy Research Centre, Department of Medicine, University of Melbourne Heidelberg Repatriation Hospital, Austin Health Melbourne Australia samuelfb@unimelb.edu.au	Adult NCL, especially autosomal recessive

New Zealand

Laboratory	Interests
Dr David Palmer palmerd@lincoln.ac.nz	Large animal models for NCL
Dr Stephanie Hughes Neural Development and Disease Laboratory Brain Health Research Centre Department of Biochemistry University of Otago, PO Box 56, Dunedin 9054 stephanie.hughes@otago.ac.nz Tel: + 64 3 479 3761 http://biochem.otago.ac.nz	CLN5 and CLN6 variant late infantile NCL, gene and drug therapies, mouse and sheep models