14th International Workshop on Ataxia-Telangiectasia and ATM

描述(由申请者提供)：为第14届共济失调-毛细血管扩张症和自动取款机国际研讨会提供部分资金，该研讨会将在加利福尼亚州雷东多海滩的皇冠假日酒店举行。2010年4月11日至14日。我们预计将邀请大约60名发言者；其中一半将由组委会和会议联合主席选出，另一半将来自针对AT/ATM重点关注的“感兴趣的主题”清单提交的摘要，该清单将张贴在会议网站上。组委会和联合主席将对收到的摘要进行审查。剩下的摘要将以海报的形式展示；有100张海报的空间。共济失调-毛细血管扩张症(A-T)是一种复杂的常染色体隐性遗传病，以进行性小脑性共济失调、毛细血管扩张、免疫缺陷、基因组不稳定、辐射敏感性和癌症发病率显著增加为特征，通常是淋巴瘤或白血病。据估计，普通人群中有1-6%的人携带ATM(共济失调-毛细血管扩张突变)基因的一个等位基因突变，ATM杂合子患乳腺癌的风险增加。ATM基因编码一个大的(369 KDa)蛋白ATM，它是丝氨酸/苏氨酸蛋白激酶中磷脂酰肌醇3激酶家族的成员。ATM的主要作用似乎是识别和修复双链DNA断裂，通过协调细胞周期检查点控制和向数百个下游靶点发送信号。缺乏ATM的细胞对电离辐射(IR)和其他DNA损伤剂高度敏感。了解ATM的功能对于理解ATM在神经发育和神经退行性变中的作用，增加癌症易感性的分子基础，以及控制细胞对辐射损伤和拟放射化疗药物的反应的分子机制具有重要意义。A-T也已经成为研究针对突变的药物来纠正遗传病的模型。动物模型和数百个患者来源的细胞系都是可用的，都有已确定的突变。会议目标：会议的目标是汇聚一个国际基础和临床研究小组，他们致力于A-T和相关神经退行性疾病的各个方面，以及ATM在癌症、DNA损伤反应和涉及DNA整合的病毒感染中的作用。我们的目标是促进研究，从而更好地理解和治疗A-T和其他遗传性疾病。会议的具体重点领域将包括ATM和相关蛋白质在DNA损伤反应中的作用、染色质和基因组不稳定在ATM激活中的重要性、ATM在神经系统发育和神经退化中的作用、A-T的动物模型、乳腺癌和其他人类癌症中的ATM突变、ATM突变的流行病学，以及全球A-T患者未来临床试验的开发和设计。我们还希望鼓励新的年轻研究人员对临床和基础A-T/ATM相关研究产生兴趣。

DESCRIPTION (provided by applicant): Funds are requested for partial support towards the 14th International Workshop on Ataxia-Telangiectasia and ATM, which will be held at the Crowne Plaza Hotel in Redondo Beach, CA. on April 11-14, 2010. We expect to invite approximately 60 speakers; half of these will be selected by the Organizing Committee and Co-Chairs of their sessions, while the other half will come from abstracts submitted in response to an AT/ATM-focused list of "Topics of Interest" that will be posted on the conference website. The incoming abstracts will be reviewed by both the Organizing Committee and the Co-Chairs. The remaining abstracts will be presented as posters; there is room for 100 posters. Ataxia-telangiectasia (A-T) is a complex autosomal recessive disorder that is characterized by a progressive cerebellar ataxia, telangiectasia, immunodeficiency, genomic instability, radiation sensitivity, and a markedly increased incidence of cancer, usually lymphoma or leukemia. It has been estimated that 1-6% of the general population carries mutations in one allele of the ATM (ataxia-telangiectasia mutated) gene and ATM heterozygotes have an increased risk of developing breast cancer. The ATM gene encodes a large (369 kDa) protein, ATM, which is a member of the phosphatidyl inositol 3 kinase family of serine/threonine protein kinases. The major role of ATM appears to be in the recognition and repair of double strand DNA breaks, through coordinated cell cycle checkpoint control and signaling to hundreds of downstream targets. Cells that lack ATM are highly sensitive to ionizing radiation (IR) and other DNA damaging agents. Understanding the function of ATM is of considerable importance to understanding the role of ATM in neural development and neurodegeneration, the molecular basis for increased cancer predisposition, and the molecular mechanisms that control how cells respond to radiation damage and radiomimetic chemotherapeutic drugs. A-T has also become a model for the study of mutation-targeted drugs for correcting genetic diseases. Animal models and hundreds of patient-derived cell lines are available, with identified mutations. Objectives of the meeting: The objectives of the meeting are to bring together an international group of basic and clinical researchers working on various aspects of A-T and related neurodegenerative diseases, as well as on the role of ATM in cancer, the DNA damage response, and in viral infections that involve DNA integration. Our goal is to stimulate research that will lead to better understanding and treatment of A-T and other genetic diseases. Specific areas of focus of the meeting will include the role of ATM and related proteins in the DNA damage response, the importance of chromatin and genomic instability in the activation of ATM, the role of ATM in the developing nervous system and in neurodegeneration, animal models of A-T, ATM mutations in breast and other human cancers, the epidemiology of ATM mutations, and the development and design of future clinical trials for A-T patients worldwide. We also hope to encourage new young investigators to develop an interest in both clinical and basic A-T/ATM-related research.