12th International NCL Congress

描述（由申请人提供）：神经性神经样脂褐细胞病（NCLs）是儿童最常见的神经退行性疾病，发病率为每10万活产婴儿7-10例。它们是进行性的和致命的，使患者的生命缩短到早期正常发育的非常少的有意义的几年，随后是运动、视觉和智力技能的进行性恶化，被限制在床上，完全无助，并因频繁的癫痫发作而进一步复杂化，最终过早死亡。在过去的十年中，主要的发现阐明了这一神秘的溶酶体疾病组已经完成。目前，有八种不同的基因位点被假设。CLN1和CLN2是两种早期临床类型，分别由两种溶酶体酶缺失引起，分别是棕榈酰蛋白硫酯酶1 （PPT1）和三肽基肽酶1 （TPP1）。CLN3、CLN5、CLN6和CLN8四种NCL分别是由编码四种新的跨膜蛋白的基因突变引起的，其生理功能尚不清楚。此外，组织蛋白酶D的缺乏已知会导致绵羊的先天性NCL，据报道也会导致人类的先天性NCL。在过去的20年里，国际大会每隔2-3年在美国和欧洲轮流举行，上一次会议于2007年7月在美国纽约州罗切斯特市举行。本次大会首次与巴顿病家庭年度会议，即国家巴顿病支持和研究协会（BDSRA）会议同时举行。提议的下一届大会将于2009年6月在德国汉堡举行。本次大会的目的是：1、大会的宗旨是：提供一个论坛，介绍所有主要国际研究小组在巴顿病方面的最新成果，并接受与理解巴顿病有关的主要科学家的投入。2. 鼓励学生、初级研究人员和少数民族在会议上展示他们的工作。3. 鼓励辅助领域的新研究人员展示他们在巴顿基因产品方面的工作，并与其他研究小组合作。4. 将基础研究水平的进步转化为治疗策略和改善患者护理。5. 促进NCL调查人员与受影响儿童及其家庭之间的互动。

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 Rochester, NY, USA in July, 2007. For the first time this Congress was held in conjunction with the yearly family conference for families with Batten Disease, namely the National Batten Disease Support and Research Association (BDSRA) meeting. The proposed next Congress will be held in June 2009 in Hamburg, Germany. 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. PUBLIC HEALTH RELEVANCE: The Congress will aid interactions of researchers that will hopefully expedite a greater understanding for these diseases.