NCL resource

Rare NCL Gene Consortium

The RNGC was established in 2006. It is a group of international laboratories who began working together to identify new NCL genes by genetic and biological approaches.

Five project streams have so far been initiated:

1: Homozygosity mapping in consanguineous families
2: Genetic linkage mapping in multiply affected families
3: Proteomic studies on cell lines
4: Genetic linkage in dominantly inherited families
5: Analysis of single samples using new DNA technologies
6: Analysis of NCL families for known NCL genes

Those (eg research or diagnostic laboratories or clinicians) interested in contributing to the work of the RNGC in any way are invited to contact the coordinator (Dr Sara Mole) to discuss this further.

RNGC Database (user and password protected)

List of RNGC laboratories

Laboratory	Role	Resources
Dr Sara Mole University College London London, United Kingdom s.mole@ucl.ac.uk Tel: +44 207 679 7257	Coordinator	Rare NCL families DNA and cell lines
Dr Angela Schulz University Medical Center Hamburg-Eppendorf Hamburg, Germany an.schulz@uke.uni-hamburg.de Tel: +49-40-42803-3710 / -3733	Genetic linkage Exclusion of known genes Diagnostics	Rare NCL families DNA and cell lines
Drs David E Sleat and Peter Lobel Center for Advanced Biotechnology and Medicine Rutgers, Piscataway, NJ 08854, USA sleat@cabm.rutgers.edu Tel: +1 732-235-5028	Lysosomal proteomics	NCL cell lines
Dr Robert Steinfeld Dept. of Pediatrics University of Goettingen Goettingen, Germany rsteinfeld@med.uni-goettingen.de Tel: +49 551 398035	Diagnostics Lysosomal enzymes Exclusion of known genes	Rare NCL families
Drs Milan Elleder, 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 melleder@beba.cesnet.cz 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
Margie Frazier, PhD – Executive Director BDSRA 1175 Dublin Road, Columbus, OH 43215, USA mfrazier@bdsra.org Tel: 1-(800) 448-4570, ext. 11 or +- (614) 973-6011; Fax: Toll-Free (866) 648-8718	Family contacts
Dr Maria Gil Ribeiro Instituto de Genética Médica Porto, Portugal gil.ribeiro@igm.min-saude.pt Tel: +351 22 6070344	Diagnostics Exclusion of known genes	Rare NCL families NCL cell lines
Prof. Dra. Inés Noher de Halac CEMECO-Hospital de Niños Córdoba, Argentina nclcemeco@nclcemeco.com.ar arrhalac@arnet.com.ar Tel: +54-351-4575974 Fax: +54 351-4586436/43	Genetic linkage Exclusion of known genes	Rare NCL families - DNA and cell lines
Drs Kathie Sims and Winnie Xin Developmental Neurogenetics Clinic Massachusetts General Hospital Harvard Medical School Boston, MA 02114, USA SIMS@HELIX.MGH.HARVARD.EDU Neurogenetics DNA Diagnostic Lab XIN@HELIX.MGH.HARVARD.EDU Tel: ++1 (617) 724-6057 /9620	Diagnostics Exclusion of known genes	Rare NCL families DNA and cell lines
Drs Filippo Santorelli and Alessandro Simonati Molecular Medicine IRCCS Bambino Gesù Hospital Rome , Italy fms3@na.flashnet.it Tel: +390458124285/6390668592104 Fax: +390668592024 University of Verona School of Medicine Department of Neurological and Visual Sciences Verona, Italy alessandro.simonati@univr.it Tel: +390458124285/6 Fax: +39045585933	Diagnostics Genetic linkage Exclusion of known genes (including animal genes)	Rare NCL families DNA and cell lines
Dr Peter Ray Department of Paediatric Laboratory Medicine The Hospital for Sick Children Toronto, Canada peter.ray@sickkids.ca Tel: +416-813-6497 Fax: +416-813-7732	Diagnostics Genetic linkage Exclusion of known genes
Dr Nanbert Zhong Director of Molecular Neurogenetic Diagnostic Laboratory NYS Office of Mental Retardation and Developmental Disabilities Institute for Basic Research in Developmental Disabilities 1050 Forest Hill Road Staten Island, NY 10314 nanbert.zhong@omr.state.ny.us Tel: +1-718-494-5242 Fax: +1-718-494-4882	Diagnostics	NCL families Cell lines
Dr Rose-Mary Boustany Abuhaidar Neuroscience Institute American University of Beirut Box:11-0236 Riad El Solh 11072020 Beirut Lebanon rb50@aub.edu.lb Tel: +961 1 350 000 ext 5640/5641/5642 Fax: +961 1 750699	Clinical Genetic linkage	NCL families Cell lines
Drs Christine Van Broeckhoven and Julie van der Zee VIB - Department of Molecular Genetics Neurodegenerative Brain Diseases group University of Antwerp - CDE Universiteitsplein 1 B-2610 Antwerpen christine.vanbroeckhoven@ua.ac.be Tel: +32 3 265 1002 Fax: +32 3 265 1012 julie.vanderzee@molgen.vib-ua.be Tel: +32 3 265 1038 Fax: +32 3 265 1012 Drs Peter CG Nijsen, Sylvia Boesch and Rainer Ehling St. Elisabeth Hospital Hilvarenbeekseweg 60 P.O. Box 90151 5000 LC Tilburg The Netherlands p.nijssen@elisabeth.nl Tel: +31135392552 Department of Neurology Medical University Innsbruck Anichstrasse 35 6020 Innsbruck Austria Sylvia.boesch@i-med.ac.at	Genetic linkage Clinical	NCL families
Dr Helen Michelakakis Head of Department of Enzymology and Cellular Function 'Aghia Sophia' Children's Hospital 11527 Athens, Greece inchildh@otenet.gr	Diagnostics
Hans H. Goebel, MD Professor of Neuropathology Department of Neuropathology Johannes Gutenberg-University Medical Center Langenbeckstr. 1, 55131 Mainz, Germany Tel: +49-6131-17 7033 Fax: +49-6131-17 6606 goebel@neuropatho.klinik.uni-mainz.de	Diagnostics - EM
Dr Nicholas J Lench Director, Regional Genetics Laboratory Great Ormond Street Hospital for Children York House, 37 Queen Square London, WC1N 3BH Email: lenchn@gosh.nhs.uk Tel: +44-20-7762-6870 Prof Simon Heales Enzyme Unit, Chemical Pathology, Level 5, Camelia Botnar Laboratories Great Ormond Street Hospital for Children London, WC1N 3JH Email: healeS@gosh.nhs.uk Tel: +44-20-7813-8321 Glenn W Anderson Clinical Electron Microscopist Histopathology Department, Level 3, Camelia Botnar Laboratories Great Ormond Street Hospital for Children London, WC1N 3JH Email: anderg@gosh.nhs.uk Tel: +44-20-7829-7907	Diagnostics Full DNA analysis Enzyme, EM pathology
Marie Jackson Consultant Clinical Scientist Director of the Biochemical Genetics Laboratory David Cregeen Principal Clinical Scientist Biochemical Genetics Laboratory 5th Floor Tower Wing Guys Hospital London SE1 9RT Email: marie.jackson@gstt.nhs.uk Email: david.cregeen@gsts.com Tel: +44 (0) 207 1882591 Ruth Williams Paediatric Neurolgost Evelina Children's Hospital Batten Disease Clinic Guy's and St Thomas' NHS Foundation Trust London SE1 7EH Email: Ruth.Williams@gstt.nhs.uk Tel: +44 207 188 3998	Diagnostics Full DNA analysis Enzyme
Dr Susanne Schneider Section of Clinical and Molecular Neurogenetics Department of Neurology University of Lubeck Ratzeburger Allee 160 23538 Lubeck; Germany Email: susanne.schneider@neuro.uni-luebeck.de	Diagnostics ATP13A2 Kufor Rakeb disease

NCL RESOURCE - A GATEWAY FOR BATTEN DISEASE

Rare NCL Gene Consortium

List of RNGC laboratories