CdLS Scientific Symposia, Cohesin Biology and Cohesinopathy Meetings

描述(由申请人提供)：该申请的长期目标是建立一个持续的论坛，供基础和临床科学家就Cornelia de Lange综合征(CDLS)和其他粘连疾病交换信息，包括罗伯茨综合征(RBS)、a-地中海贫血/智力低下X连锁(ATRX)和华沙破裂综合征(WABS)。这些综合征是由影响姐妹染色单体凝聚蛋白的突变引起的，并表现出重叠的不同结构异常和智力障碍。在凝聚力蛋白在凝聚力、DNA修复和基因表达方面的分子理解以及对这些综合征的临床理解方面都取得了迅速的进展。因此，转化性研究有巨大的机会，可以改善诊断、治疗和临床预测。然而，标准的科学会议并不能促进基础和临床科学家之间的交流。自2004年以来，组织了聚集这些领域的领先基础和临床科学家的有重点的会议，明确的目的是促进转化性研究。这些一年一度的会议轮流在美国和意大利的地点举行，以最大限度地提高国际参与度。他们成功地促进了新的研究和合作，导致了新的综合征基因、诊断方法、潜在的治疗分子靶标的发现，改善了临床前景和前瞻性指导。这些会议的参与者表达了继续这些会议的强烈愿望，这与基础和临床领域的快速发现相匹配。主办方要求为另外五次会议、两次在美国举行的CDLS科学研讨会(2012年、2014年)和三次在意大利举行的粘附素生物学和粘附素病会议(2011年、2013年、2015年)提供支持。下一次会议将是2001年5月20日至23日在意大利巴尔加附近的Il Ciocco酒店举行的第三次粘附素生物学和粘附性疾病会议。科学会议的具体目标，包括并鼓励妇女、少数群体和受训人员的参与，是：1.向科学家、临床医生、心理学家、教师、专职卫生专业人员和家庭传播关于CDLS、RBS、ATRX、WABS的病因、诊断、表型、病理生理学和治疗的最新研究结果，以及任何新发现的粘连疾病；2.促进来自不同学科的研究人员之间的合作，包括儿科遗传学家、分子生物学家和行为科学家，从而刺激翻译科学，从而改进诊断和治疗方法。人们相信，这些会议将吸引领先的基础和临床科学家，并刺激翻译突破。研究的步伐很快，持续的会议将有利于参与研究和治疗的专业人员以及受影响的个人及其家人。 叙述：粘连症是一种遗传缺陷，会影响心理和身体发育。拟议的科学会议将把科学家、医生和其他专业人士聚集在一起，分享他们的知识，并鼓励对病因、诊断和治疗进行跨学科和转化性研究。

DESCRIPTION (Provided by Applicant): The long-term goal of this application is to establish a continuing forum for exchange of information among basic and clinical scientists on Cornelia de Lange syndrome (CdLS) and other cohesinopathies, including Roberts syndrome (RBS), a-thalassemia/mental retardation X-linked (ATRX), and Warsaw breakage syndrome (WABS). These syndromes are caused by mutations that affect sister chromatid cohesion proteins, and display overlapping diverse structural abnormalities and mental disabilities. There is rapid progress in both the molecular understanding of cohesion proteins in cohesion, DNA repair, and gene expression, as well as in the clinical understanding of these syndromes. Thus there is tremendous opportunity for translational research that could lead to improvements in diagnosis, treatment, and clinical predictions. Standard scientific meetings, however, do not promote communication between basic and clinical scientists. Since 2004, focused meetings that bring leading basic and clinical scientists in these areas have been organized with the express purpose of promoting translational research. These yearly meetings have alternated between venues in the USA and Italy, to maximize international participation. They have successfully stimulated new research and collaborations that have led to discovery of new syndrome genes, diagnostic methods, potential molecular targets for therapy, improved clinical perspectives and anticipatory guidance. Participants in these meetings have expressed a strong desire to continue them, which is matched by a rapid pace of discovery in both the basic and clinical areas. The organizers are requesting support for five more meetings, two CdLS Science Symposia to be held in the USA (2012, 2014), and three Cohesin Biology and Cohesinopathies meetings in Italy (2011, 2013, 2015). The next meeting will be the 3rd Cohesin Biology and Cohesionopathies Meeting on May 20-23 2001 at the Il Ciocco Hotel near Barga, Italy. The specific objectives of the scientific meetings, which include and encourage participation of women, minorities, and trainees, are: 1. To disseminate current results of research into the causes, diagnosis, phenotypes, pathophysiology, and treatment of CdLS, RBS, ATRX, WABS as well as any new cohesinopathies that are discovered to scientists, clinicians, psychologists, teachers, allied health professionals, and families; and 2. To facilitate collaborations among researchers from diverse disciplines, including pediatric geneticists, molecular biologists, and behavioral scientists, and thereby stimulate translational science leading to improved diagnostic and therapeutic methods. It is believed these meetings will attract leading basic and clinical scientists as well as stimulate translational breakthroughs. The pace of research is rapid, and the continued meetings will be beneficial to professionals involved in research and treatment, as well as affected individuals and their families. NARRATIVE: Cohesinopathies are genetic birth defects that affect mental and physical development. The proposed scientific meetings will bring together scientists, doctors, and other professionals to share their knowledge, and stimulate interdisciplinary and translational research into the causes, diagnosis, and treatments.