CdLS Scientific Symposia, Cohesin Biology and Cohesinopathy Meetings

CdLS 科学研讨会、粘连蛋白生物学和粘连蛋白病会议

• 批准号: 8447503
• 负责人: Liana Fresher
• 金额: $ 0.6万
• 依托单位: CORNELIA DE LANGE SYNDROME FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-04-07 至 2016-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8447503
• 关键词: Address; Affect; Animal Model; Area; Behavioral; Biology; Bruck-de Lange syndrome; Childhood; Clinical; Clinical Treatment; Collaborations; Communication; Congenital Abnormality; DNA Repair; DNA Repair Gene; Development; Diagnosis; Diagnostic; Diagnostic Procedure; Discipline; Etiology; Family; Functional disorder; Gene Expression; Genes; Genetic; Genome Stability; Goals; Human; Individual; Interdisciplinary Study; International; Italy; Knowledge; Lead; Methods; Molecular; Molecular Target; Molecular and Cellular Biology; Mutation; Participant; Pathway interactions; Phenotype; Proteins; Psyche structure; Psychologist; Research; Research Personnel; Roberts-SC phocomelia syndrome; Role; Science; Scientist; Sister Chromatid; Syndrome; Thalassemia; Therapeutic; Translational Research; Woman; Work; X-Linked Mental Retardation; cohesin; cohesion; disability; forging; improved; interest; meetings; minority trainee; profession allied to medicine; symposium; teacher

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.

描述（由申请人提供）：本申请的长期目标是建立一个持续论坛，供基础和临床科学家交流关于科尔内利亚德兰格综合征（CdLS）和其他粘连蛋白病（包括罗伯茨综合征（RBS）、α-地中海贫血/X连锁精神发育迟滞（ATRX）和华沙断裂综合征（WABS））的信息。 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，并显示重叠的不同结构异常和精神残疾。 在分子水平上对内聚蛋白在内聚、DNA修复和基因表达方面的理解以及对这些综合征的临床理解都取得了快速进展。 因此，转化研究有巨大的机会，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科学家和临床科学家之间的交流。 自2004年以来，组织了一些有重点的会议，汇集了这些领域的领先基础和临床科学家，其明确目的是促进转化研究。 这些年度会议轮流在美国和意大利举行，以最大限度地扩大国际参与。 他们成功地促进了新的研究和合作，从而发现了新的综合征基因、诊断方法、潜在的治疗分子靶点、改善了临床前景和预期指导。 这些会议的参与者表达了继续进行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。 组织者正在请求支持另外五次会议，两次将在美国举行的CdLS科学研讨会（2012年，2014年），以及三次在意大利举行的粘着蛋白生物学和粘着蛋白病会议（2011年，2013年，2015年）。 下次会议将于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。 科学会议包括并鼓励妇女、少数民族和受训人员参加，其具体目标是：1.传播目前的研究结果的原因，诊断，表型，病理生理学，和治疗的CdLS，RBS，ATRX，WABS以及任何新的cohesinopathies被发现的科学家，临床医生，心理学家，教师，专职医疗人员，和家庭;和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，从而促进转化科学，从而改进诊断和治疗方法。 相信这些会议将吸引领先的基础和临床科学家，并刺激转化突破。 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：黏连蛋白病是一种影响智力和身体发育的遗传性出生缺陷。 拟议的科学会议将汇集科学家，医生和其他专业人士分享他们的知识，并促进对病因，诊断和治疗的跨学科和转化研究。