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.


United Kingdom

Laboratory Interests
Dr Sara Mole
MRC Laboratory for Molecular Cell Biology
University College London
Gower Street, London WC1E 6BT
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
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
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



Exclusion of known genes

Rare NCL families

NCL cell lines


Laboratory Interests
Dr Anu Jalanko
National Public Health Institute
Biomedicum Dept. of Molecular Medicine
P.O. Box 104, 00251 Helsinki
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
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


Laboratory Interests
Prof Thomas Braulke
University of Hamburg
UKE, Children's Hospital-Biochemistry
Martinistr. 52, D-20246 Hamburg
Tel: +49 40 42803 4493
Dr Angela Schulz
Department of Pediatrics
University Medical Center Hamburg-Eppendorf
Martinistr. 52, D-20246 Hamburg
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
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
Linkage and gene identification for dog breeds with NCLs


Laboratory Interests

Dr Filippo Santorelli
Molecular Medicine and Neurology
IRCCS Bambino Gesù Hospital
Piazza S. Onofrio, 4; 00165 Rome
Tel: +39 0668592104

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

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
C. elegans models for NCL


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
Dog models of disease


Laboratory Interests
Dr Fernando Rodrigues
Assistant Professor
University of Minho
Life and Health Sciences Research Institute (ICVS)
Campus de Gualtar
4710-057 Braga
Tel: +351 253 604814
Yeast models: Pathological mechanisms in NCLs
Dr Lúcia Lacerda
Instituto de Genética Médica
Praca Pedro Nunes, 88
4099-028 Porto
Tel: +351 22 6070317
Clinical, morphological, biochemical and molecular study of all types of NCL
Mutations in the Portuguese NCL population


Laboratory Interests

Dr Rosemary Boustany

North America


Laboratory Interests

Berge Minassian
Division of Neurology, The Hospital for Sick Children
Toronto, Canada

Eva Andermann
Neurogenetics Unit, Montreal Neurological Hospital & Institute
Departments of Neurology & Neurosurgery and Human Genetics
McGill University, Montreal, Canada


Frederick Andremann
Epilepsy Service and Seizure Clinic
Departemns of Neurology & Neurosurgery and Human Genetics
McGill University, Montreal, Canada




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
Tel: +1 215 590 3394
Fax: +1 215 590 1998
Pathogenesis of CLN3
Dr Susan Cotman

Dr Beverley Davidson

Dr Glyn Dawson
The University of Chicago
5841 South Maryland Avenue, WP C490 (MC 4068)
Chicago, Illinois 60637
Tel: +1 773 702 6430
Brain Lipids Lab

Dr Adam Golabek

Prof Sandra Hofmann
Division of Hematology/Oncology
University of Texas Southwestern Medical Center
5323 Harry Hines Boulevard
Dallas, Texas 75390-8593
Tel: +1 214-648-4911

Dr Jonathan Mink
University of Rochester School of Medicine and Dentistry
601 Elmwood Avenue, Rochester NY 14642
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
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
679 Hoes Lane
Piscataway, NJ 08854
Tel: +1 732-235-5028
Fax: +1 732-235-4466
NCL lysosome biology
NCL lysosome proteomics

South America


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
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
Dr Imke Tammen

Large animal models for NCL

Dr Samuel Berkovic
Epilepsy Research Centre, Department of Medicine, University of Melbourne
Heidelberg Repatriation Hospital, Austin Health
Melbourne Australia

Adult NCL, especially autosomal recessive

New Zealand

Laboratory Interests
Dr David Palmer

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
Tel: + 64 3 479 3761

CLN5 and CLN6 variant late infantile NCL, gene and drug therapies, mouse and sheep models



Laboratory Interests
Dr Junjo Ezaki
Department of Biochemistry Juntendo University School of Medicine 2-1-1, Hongo, Bunkyo-ku
Tokyo 113-8421