2nd Cohesin Biology and the Cohesinopathies Meeting

描述（由申请人提供）：20世纪80年代和90年代染色体结构维持（SMC）蛋白的发现为染色体生物学提供了新的见解，并导致了内聚蛋白和凝聚蛋白复合物的鉴定。在有丝分裂过程中，内聚蛋白复合物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，有人提出内聚蛋白也可能通过远程增强子-启动子相互作用参与基因调控的特定机制。2004年，首次发现了由这些复合物的改变引起的人类发育障碍，即科尼利亚·德·兰格综合征（CdLS）。随后发现Roberts综合征是由正常粘聚功能破坏引起的，随后是ATRX综合征。这种由共同的分子病理生理学联系起来的越来越多的疾病被称为“内聚性疾病”。

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.