2nd Cohesin Biology and the Cohesinopathies Meeting

描述(申请人提供)：20世纪80年代和90年代发现的染色体结构维持(SMC)蛋白质为染色体生物学提供了新的见解，并导致了粘附素和凝集素复合体的鉴定。在有丝分裂过程中，粘附素复合体及其调节因子在姐妹染色单体分离中起着典型的作用。到2000年，有人提出，粘附素也可能通过长距离增强子-启动子相互作用参与基因调控的特定机制。2004年，第一个由这些复合体的改变引起的人类发育障碍--Cornelia de Lange综合征(CDLS)--被发现。罗伯茨综合征随后被发现是由正常凝集素功能障碍引起的，其次是ATRX综合征。这种由共同的分子病理生理学联系在一起的疾病越来越多，被称为“粘连病症”。 2007年5月，在意大利瓦伦纳的瓦伦纳会议中心举行了第一次聚焦于粘附素生物学和粘附素疾病当前方面的国际研讨会。这次会议聚集了凝聚素生物学领域的领导者以及研究这一途径中断所引起的疾病的临床医生，目的是将两个小组的想法交叉授粉，以推进对这些诊断的研究。这次会议取得了圆满成功。本申请请求支持将于2009年5月8日至11日在意大利Certosa举行的第二届“粘附素生物学和粘附素病会议”。这些科学会议将继续每两年举行一次。会议将包括并鼓励妇女、少数民族和受训人员参加。会议的目标包括：1)提供一个论坛，介绍有关粘附素功能和粘附素疾病的临床和基础科学研究；2)创造一个环境，使粘附素生物学领域的领导者和研究粘附素相关疾病的各个方面的临床医生可以相互交流，产生合作和未来的研究事业。组织者期望在这次会议过去成功的基础上，激发热情和合作，鼓励初级研究人员和对该研究领域感兴趣的研究员对该领域感兴趣，并为研究和临床倡议创造新的想法。 公共卫生相关性：本申请请求支持将于2009年5月8日至11日在意大利Certosa举行的第二届“粘附素生物学和粘附素病会议”。会议将为介绍粘附素功能和粘附素疾病的临床和基础科学研究提供一个论坛，并创造一个环境，使粘附素生物学领域的领导者和研究粘附素相关疾病的各个方面的临床医生可以相互交流，以产生合作和未来的研究事业。

DESCRIPTION (provided by applicant): The discovery of the structural maintenance of chromosomes (SMC) proteins in the 1980s and 1990s provided new insights into chromosome biology and led to the identification of the cohesin and condensin complexes. The cohesin complex and its regulators have a canonical role in sister chromatid segregation during mitosis. By 2000 there was a suggestion that cohesin may also be involved in a specific mechanism of gene regulation through long range enhancer-promoter interactions. In 2004, the first human developmental disorder to be caused by alterations in these complexes, the Cornelia de Lange syndrome (CdLS), was identified. Roberts syndrome was subsequently found to be caused by disruption of normal cohesin function, followed by the ATRX syndrome. This growing group of disorders, linked by a common molecular pathophysiology, has come to be known as "cohesinopathies". The first international symposium focusing on current aspects of cohesin biology and cohesinopathies took place at the Varenna Conference Centre, Varenna, Italy in May, 2007. This meeting brought together leaders in the field of cohesin biology as well as clinicians studying the disorders caused by disruption of this pathway with a goal of cross-pollinating ideas from the two groups towards advancing research into these diagnoses. The meeting was a resounding success. This current application requests support for the Second "Cohesin Biology and Cohesinopathies Meeting" to be held in Certosa, Italy from May 8-11, 2009. These scientific meetings will continue to be held on a biennial basis. The conference will include and encourage the participation of women, minorities, and trainees. The objectives of the meeting include: 1) provide a forum for the presentation of clinical and basic science research into cohesin function and cohesinopathies, and 2) create an environment in which leaders in the field of cohesin biology and clinicians studying various aspects of cohesin-related disorders can interact with each other to engender collaborations and future research undertakings The organizers expect to build on the past success of this meeting, generate enthusiasm and collaboration, encourage interest in the field from junior investigators and fellows interested in this area of research, as well as create new ideas for research and clinical initiatives. PUBLIC HEALTH RELEVANCE: This current application requests support for the Second "Cohesin Biology and Cohesinopathies Meeting" to be held in Certosa, Italy from May 8-11, 2009. The meeting will provide a forum for the presentation of clinical and basic science research into cohesin function and cohesinopathies, and create an environment in which leaders in the field of cohesin biology and clinicians studying various aspects of cohesin-related disorders can interact with each other to engender collaborations and future research undertakings.