NCL RESOURCE - A GATEWAY FOR BATTEN DISEASE

Research Consortia

Call for research samples - LINCL, ANCL and JNCL variants

The underlying gene has not been identified in all patients diagnosed with NCL. This page provides information on laboratories holding samples suitable for mutation or biological analyses of rare and atypical cases of NCL.
Researchers who identify a novel gene that causes NCL in a model organism and who wish to correlate this with disease in humans, perhaps by accessing samples for mutation analysis are invited to contact the laboratories to arrange this on a collaborative basis.
Research laboratories or diagnostic laboratories holding such samples of atypical NCL are invited to contact the curator to leave details of this to facilitate and expedite future research.
Clinicians who are caring for affected families who may wish to contribute samples for biological research are invited to contact one of these research laboratories to discuss this further.

The Rare NCL Gene Consortium (coordinator Dr Sara Mole, s.mole@ucl.ac.uk) are a group of international laboratories working together to identify new NCL genes by genetic approaches.
Research laboratories or clinicians who are caring for affected families who may wish to contribute samples for biological research are invited to contact the coordinator to discuss this further.

List of laboratories

Laboratory	NCL samples held	Ethical approval	NCL types of particular interest	Collaboration interest
Dr Sara Mole University College London s.mole@ucl.ac.uk Tel: +44 207 679 7257	All NCL types >500 families DNA, Fibroblast and Lymphoblast cell lines	Receipt and distribution on a research basis Establishment of fibroblast cell line from skin biopsy	Congenital Variant LINCL Variant JNCL Adult onset	Model organism candidate gene analysis Linkage analysis Biology Expansion of resource of fibroblast cell lines of variant NCL types for future genetic and biological research
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	All NCL types DNA, Fibroblast cell lines	Receipt and distribution on a research basis Establishment of fibroblast cell line from skin biopsy	Congenital Variant LINCL Variant JNCL Adult onset	Candidate gene analysis Linkage analysis
Dr Alessandro Simonati University of Verona School of Medicine alessandro.simonati@univr.it Tel: +39 0458074285/6	DNA		Variant LINCL Adult onset	Identifcation of novel genes
Dr Robert Steinfeld Dept. of Pediatrics University of Goettingen Goettingen, Germany rsteinfeld@med.uni-goettingen.de Tel: +49 551 398035	DNA Cell lines		Congenital Variant LINCL Variant JNCL Adult onset	Diagnostics Lysosomal enzymes Linkage anaysis