Conference--Neuronal Ceroid Lipofuscinosis

University Of Chicago, Chicago IL

Investigators

Abstract

DESCRIPTION (provided by applicant): Conference Support is sought for the Ninth International Congress on the Ceroid Lipofuscinoses to be held in Chicago, Illinois from April 10, 2003 to April 13, 2003. Neuronal Ceroid Lipofuscinoses (Batten Disease) are a group of inherited neurodegenerative disorders characterized by blindness, recurrent seizures and progressive, severe mental retardation. They are the most common neurodegenerative diseases of children and their pathological hallmark is the accumulation of auto fluorescent pigment, primarily in neurons. In the last 7 years, mutations in at least 8 different genes have been shown to result in a form of Batten disease. Two of these, palmitoyl; protein thioesterase (PPT1) and tripeptidylpeptidase (TPP 1) are mutated in CLN1 and CLN2 respectively and behave as lysosomal hydrolases. The genes involved in CLN3, 5, 6 and 8 code for membrane proteins of unknown function. An animal model of NC1 results from mutations in cathepsin D and the working hypothesis is that all these genes code for proteins involved in intracellular trafficking of neuronal proteins destined for catabolism. The development of transgenic animal models of the various forms of NCL has led to exciting new insights and vehicles for therapeutic endeavors. The Conference will focus on human genetics, diagnostics, mechanisms of intracellular trafficking and how this information can be used to devise therapeutic strategies. Particular emphasis will be put on drug, gene and stem-cell based therapies. The importance of the Conference is that it uniquely brings together senior scientists and junior investigators from all parts of the globe to foster exchange of research data and to stimulate future collaborative efforts aimed at eliminating this group of devastating diseases.