12th International NCL Congress

描述(申请人提供)：神经性蜡样脂褐素增多症(NCLS)是最常见的儿童神经退行性疾病，每10万名活产儿中有7-10例。它们是渐进性的和致命的，将患者的生命减少到极少数有意义的早期正常发育年份，随后运动、视觉和心理技能逐渐恶化，卧床和完全无助进一步加剧了频繁的癫痫发作，并最终过早死亡。在过去的十年里，对这组神秘的溶酶体疾病的重大发现已经完成。目前，已有8个不同的遗传位点被推测。早期的两种临床类型CLN1和CLN2分别是由于棕榈酰基蛋白硫酯酶1(PPT1)和三肽基肽酶1(TPP1)两种溶酶体酶的缺乏引起的。四种NCL类型CLN3、CLN5、CLN6和CLN8分别是由编码四种新的跨膜蛋白的基因突变引起的，这些蛋白的生理功能尚不清楚。此外，组织蛋白酶D的缺乏已知会导致绵羊的一种先天性NCL，据报道也会导致人类的先天性NCL。在过去的20年里，国际会议在美国和欧洲之间交替举行，每隔2-3年举行一次，上一次会议于2007年7月在美国纽约州罗切斯特举行。这次大会第一次与巴顿病家庭年度会议，即全国巴顿病支持和研究协会(BDSRA)会议同时举行。拟议的下一届大会将于2009年6月在德国汉堡举行。本届大会的目标是：1.提供一个论坛，供所有主要国际研究小组介绍巴顿病的最新成果，并接受与了解巴顿病相关工作的顶尖科学家的意见。2.鼓励学生、初级调查人员和少数族裔在会议上介绍他们的工作。3.鼓励辅助领域的新研究人员展示他们在Batten基因产品方面的工作，并与其他研究小组合作。4.将基础研究方面的进展转化为治疗策略和改善病人护理。5.促进NCL调查人员与受影响儿童及其家人之间的互动。 与公共卫生相关：大会将帮助研究人员之间的互动，希望这将加速对这些疾病的更多了解。

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.