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