11th International Congress on Neuronal Ceroid Lipofuscinosis

University Of Rochester, Rochester NY

Investigators

Abstract

[unreadable] DESCRIPTION (provided by applicant): The Neuronal Ceroid Lipofuscinoses (NCLs) are the most common group of neurodegenerative diseases of childhood with a frequency of 7-10 per 100,000 live births. They are progressive and fatal, reducing patients' lives to very few meaningful years of early normal development followed by progressive deterioration of motor, visual, and mental skills, confinement to bed and complete helplessness further complicated by frequent epileptic seizures and ultimately premature death. Over the past decade, major discoveries elucidating this enigmatic group of lysosomal disorders have been accomplished. Currently, eight different genetic loci have been postulated. Two early clinical types, CLN1 and CLN2, are caused by deficiencies of two lysosomal enzymes, respectively, palmitoyl protein thioesterase 1 (PPT1) and tripeptidyl peptidase 1 (TPP1). Four NCL types, CLN3, CLN5, CLN6 and CLN8, respectively, are caused by mutations in genes encoding four new transmembrane proteins, the physiological functions of which are still unknown. In addition, deficiency of cathepsin D is known to cause a congenital form of NCL in sheep was reported to result in congenital NCL in humans. The International Congress has alternated between the USA and Europe for the past 20 years at an interval of 2-3 years, and the last Conference was held in Helsinki, Finland in June of 2005. It represents the main forum for the exchange of data and ideas about NCL research and this Conference is the only one of its kind. The Congress will be held at the Hyatt Hotel, Rochester, NY, USA from July 14th to 17th, 2007. For the first time this Congress will be held in conjunction with the yearly family conference for families with Batten Disease, namely the National Batten Disease Support and Research Association (BDSRA) meeting, July 12th 15th, at the same location. Thus, there will be one overlapping session for both meetings on therapeutic strategies, the topic of most interest to parents with children with Batten Disease. The aims of this congress are: 1. Provide a forum for presentation of the latest results by all the major international groups of researchers in Batten disease and to receive input from leading scientists whose work is relevant to understanding Batten disease. 2. Encourage students, junior investigators and minorities to present their work at the conference. 3. Encourage new researchers in ancillary fields to present their work on Batten gene products and to collaborate with other research groups. 4. To translate advances at the basic research level into therapeutic strategies and improved patient care. 5. To promote interactions among NCL investigators and affected children their families. The Congress will aid interactions of researchers that will hopefully expedite a greater understanding for these diseases. The Neuronal Ceroid Lipofuscinoses (NCLs) are the most common group of neurodegenerative diseases of childhood with a frequency of 7-10 per 100,000 live births. The Congress will aid interactions of researchers that will hopefully expedite a greater understanding for these diseases. [unreadable] [unreadable] [unreadable]