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