11th International Congress on Neuronal Ceroid Lipofuscinosis

第十一届国际神经元蜡质脂褐质沉积症大会

• 批准号: 7277495
• 负责人: DAVID A. PEARCE
• 金额: $ 3.42万
• 依托单位: UNIVERSITY OF ROCHESTER
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-04-01 至 2008-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7277495
• 关键词: Affect; Basic Science; Beds; Cathepsins; Cessation of life; Child; Childhood; Clinical; Congresses; Data; Deterioration; Development; Disease; Enzymes; Epilepsy; Europe; Family; Finland; Frequencies; Genes; Genetic; Human; Integral Membrane Protein; International; Life; Live Birth; Location; Minority; Mutation; Neurodegenerative Disorders; Neuronal Ceroid-Lipofuscinosis; Parents; Patient Care; Patients; Physiological; Proteins; Psyche structure; Reporting; Research; Research Personnel; Scientist; Sheep; Spielmeyer-Vogt Disease; Students; Support of Research; Therapeutic; Time; Translating; Work; improved; interest; skills; symposium; thioesterase PPT1 gene product; tripeptidyl aminopeptidase; visual motor

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.

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2005年6月在芬兰赫尔辛基举行。它代表着关于NCL研究的数据和思想交流的主要论坛，而本次会议是唯一的此类会议。大会将于2007年7月14日至17日在美国纽约州罗切斯特市凯悦酒店举行。本届大会将首次与每年一度的巴顿病家庭会议同时举行，即7月12日至15日在同一地点举行的全国巴顿病支持和研究协会(BDSRA)会议。因此，关于治疗策略的两个会议将有一个重叠的会议，这是患有巴顿病儿童的父母最感兴趣的话题。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。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。神经元性蜡样脂褐素病(NCLS)是儿童最常见的神经退行性疾病，每10万名活产儿中有7-10名。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。