12th International NCL Congress

描述（由申请方提供）：神经元蜡样脂褐质病（NCL）是儿童期最常见的神经退行性疾病，发生率为每100，000例活产7-10例。它们是进行性的和致命的，使患者的生命减少到很少有意义的早期正常发育年数，随后是运动、视觉和心理技能的进行性恶化，卧床不起和完全无助，进一步由频繁的癫痫发作和最终的过早死亡复杂化。在过去的十年中，已经完成了阐明这组神秘的溶酶体疾病的重大发现。目前，已经假设了八个不同的遗传位点。两种早期临床类型，CLN 1和CLN 2，是由两种溶酶体酶，分别为棕榈酰蛋白硫酯酶1（PPT 1）和三肽基肽酶1（TPP 1）的缺陷引起的。CLN 3、CLN 5、CLN 6和CLN 8这四种类型的NCL分别是由编码四种新的跨膜蛋白的基因突变引起的，其生理功能仍然未知。此外，已知组织蛋白酶D缺乏会导致绵羊先天性NCL，据报告，组织蛋白酶D缺乏会导致人类先天性NCL。国际大会在过去的20年里每隔2-3年在美国和欧洲轮流举行，上一届会议于2007年7月在美国纽约州的罗切斯特举行。这是第一次与每年一度的巴滕氏病家庭会议，即全国巴滕氏病支持和研究协会（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。这次大会的目的是：1。提供一个论坛，介绍所有主要国际研究人员在Batten病方面的最新成果，并接受其工作与了解Batten病有关的领先科学家的投入。2.鼓励学生、初级研究人员和少数民族在会议上介绍他们的工作。3.鼓励辅助领域的新研究人员介绍他们在Batten基因产品方面的工作，并与其他研究小组合作。4.将基础研究水平的进展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人之间的互动。 公共卫生相关性：大会将帮助研究人员的互动，希望能加快对这些疾病的更好理解。

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.