Conference--Neuronal Ceroid Lipofuscinosis

会议--神经性蜡质脂褐质沉积症

• 批准号: 6611507
• 负责人: Glyn Dawson
• 金额: $ 3万
• 依托单位: UNIVERSITY OF CHICAGO
• 依托单位国家: 美国
• 财政年份: 2003
• 资助国家: 美国
• 起止时间: 2003-05-15 至 2004-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6611507
• 关键词: gene therapy; meeting /conference /symposium; nervous system disorder chemotherapy; nervous system disorder therapy; neuronal ceroid lipofuscinosis; stem cell transplantation; travel

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.

描述（由申请人提供）： 为将于2003年4月10日至2003年4月13日在伊利诺斯州芝加哥举行的第九届蜡样脂褐质病国际大会寻求会议支持。神经元蜡样脂褐质病（Batten病）是一组遗传性神经退行性疾病，其特征是失明、反复发作和进行性严重智力低下。它们是儿童最常见的神经退行性疾病，其病理标志是主要在神经元中的自体荧光色素的积累。在过去的7年中，至少8种不同基因的突变已被证明会导致一种形式的Batten病。其中两种是棕榈酰蛋白硫酯酶（PPT 1）和三肽基肽酶（TPP 1）分别在CLN 1和CLN 2中突变，并表现为溶酶体水解酶。参与CLN 3、5、6和8的基因编码功能未知的膜蛋白。NC1的动物模型是由组织蛋白酶D突变引起的，并且工作假设是所有这些基因编码参与细胞内运输神经元蛋白的蛋白质，所述神经元蛋白注定为catalysts。各种形式的NCL的转基因动物模型的发展已经导致了令人兴奋的新的见解和治疗努力的车辆。会议将重点讨论人类遗传学、诊断学、细胞内贩运机制以及如何利用这些信息制定治疗策略。将特别强调药物、基因和干细胞疗法。会议的重要性在于，它独特地将来自地球仪各地的高级科学家和初级研究人员聚集在一起，促进研究数据的交流，并促进今后旨在消除这类毁灭性疾病的合作努力。