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: 8828737
• 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 2017-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8828737
• 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 and Cellular Biology; Mutation; Participant; Pathway interactions; Phenotype; Proteins; Psyche structure; Psychologist; Research; Research Personnel; Roberts-SC phocomelia syndrome; Role; Science; Scientist; Sister Chromatid; Structural defect; Syndrome; Thalassemia; Therapeutic; Translational Research; Woman; Work; X-Linked Mental Retardation; cohesin; cohesion; disability; forging; improved; interest; meetings; minority trainee; molecular targeted therapies; 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的论坛，以在Cornelia de Lange综合征（CDLS）（CDLS）和其他局结蛋白质病中进行信息交换，包括Roberts综合征（RBS），A- Thalassemia/Mental Ictherademia/Mental Ictherademia/Mental Persinate Wardardardectation X-Cinind X-Cinind X-Cinind X-Cinind（Atrx）和Warsaw Breakage Cyndrome（Warsaw brakeage Cyndrome）（WARSAW综合征）（WABS）（WABS）（WABS）（WABS）。 这些综合征是由影响姐妹染色质凝聚蛋白的突变引起的，并表现出重叠的多种结构异常和精神障碍。 在内聚力，DNA修复和基因表达以及对这些综合征的临床理解中，对内聚蛋白的分子理解都在迅速发展。 因此，有很大的转化研究机会可以改善诊断，治疗和临床预测。 但是，标准的科学会议不会促进基本科学家和临床科学家之间的沟通。 自2004年以来，为这些领域的基本和临床科学家带来了主要的会议，以促进转化研究的明确目的进行了组织。 这些年度会议在美国和意大利的场地之间进行了交替，以最大程度地提高国际参与。 他们成功地刺激了新的研究和合作，这些研究导致了新的综合征基因，诊断方法，潜在的治疗分子靶标，改善的临床观点和预期指导。 参加这些会议的参与者表示强烈希望继续进行，这与基本和临床领域的发现迅速相匹配。 组织者要求支持五次会议，两次在美国举行的CDLS科学专题讨论会以及在意大利举行的三场粘蛋白生物学和粘毒素的会议（2011，2013，2015）。 下一次会议将是2001年5月20日至2001年5月20日在意大利巴尔加附近的IL Ciocco酒店举行的第三次粘蛋白生物学和局限病。 科学会议的具体目标，包括并鼓励妇女，少数群体和学员的参与：1。传播有关原因，诊断，表型，病理生理学以及CDLS，RBS，ATRX，WABS，WABS以及任何新的坐凝聚力的研究结果的研究结果，以及对科学学家，临床学家，专业人士，专业人士，专业人士，专业人士，专业人士，临床学教师，这些新的凝聚2。为了促进来自不同学科的研究人员的合作，包括小儿遗传学家，分子生物学家和行为科学家，从而刺激了转化科学，从而改善了诊断和治疗方法。 人们认为，这些会议将吸引领先的基本和临床科学家，并刺激翻译突破。 研究的步伐很快，持续的会议将对参与研究和治疗的专业人员以及受影响的个人及其家人有益。 叙事：粘粘性是影响精神和身体发育的遗传出生缺陷。 拟议的科学会议将召集科学家，医生和其他专业人员分享他们的知识，并刺激跨学科和翻译研究的原因，诊断和治疗方法。