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)
Laboratory | Role | Resources |
---|---|---|
Dr Sara Mole | 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 | 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 |
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 | Diagnostics - EM | |
Dr Nicholas J Lench | Diagnostics Full DNA analysis Enzyme, EM pathology |
|
Marie Jackson | Diagnostics Full DNA analysis Enzyme |
|
Dr Susanne Schneider | Diagnostics ATP13A2 Kufor Rakeb disease |