Williams Syndrome: International Scientific and Professional Conference

威廉姆斯综合症：国际科学和专业会议

• 批准号: 9045681
• 负责人: Helen Tager-Flusberg
• 金额: $ 0.6万
• 依托单位: BOSTON UNIVERSITY (CHARLES RIVER CAMPUS)
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-04-01 至 2017-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9045681
• 关键词: 7q11.23; Adult; Applications Grants; Audiology; Back; Base Pairing; Behavioral; Caring; Characteristics; Child; Chromosomes; Cities; Clinic; Clinical; Clinical Research; Clinical Sciences; Cognitive; Cognitive Science; Collaborations; Communities; Complex; Development; Disabled Persons; Discipline; Disease; Disease model; Education; Educational Models; Ensure; Event; Face; Family; Fostering; Foundations; Fragile X Syndrome; Funding; Genes; Genetic; Genotype; Goals; Grant; Growth; Individual; International; Knowledge; Learning; Life; Location; Medical; Medicine; Minority; Minority Participation; Neurodevelopmental Disorder; Neurologic; Neurosciences; Paper; Parents; Participant; Persons; Phenotype; Physicians; Population; Postdoctoral Fellow; Prevalence; Prize; Provider; Psychologist; Psychology; Publishing; Recruitment Activity; Research; Research Personnel; Resources; Rett Syndrome; Science; Scientist; Senior Scientist; Sodium Chloride; Speech Pathology; Speed; Staging; Structure; Students; Therapeutic; Time; Travel; United States National Institutes of Health; Williams Syndrome; base; career development; clinical practice; cost; disability; meetings; microdeletion; minority investigator; novel therapeutic intervention; programs; research study; student conference; symposium

DESCRIPTION (provided by applicant): This R13 application is a request for funds to provide partial support the biennial International Scientific and Professional Conference on Williams syndrome (WS), a well-characterized neurodevelopmental disorder caused by a chromosome microdeletion on 7q11.32 of several million base pairs. The impact of WS is far greater than its prevalence of ~1/7500 persons because it serves as a model disorder for drawing medical, cognitive and behavioral genotype-phenotype correlations. The parent organization, the Williams Syndrome Association (WSA), recognized more than 25 years ago that encouraging research would ultimately benefit their children with WS. To this end, they have sponsored a dozen small scientific/professional conferences since 1988. For several reasons, prime among which are recent advances in understanding and treating other genetically-based neurodevelopmental disorders, now is the right time for this conference to grow beyond what the parent group can sustain. The requested R13 funds will be used to expand the 2012, 2014, and 2016 WS International Scientific and Professional conferences beyond its existing foundation (which will continue to be supported with funds from the WSA). Specifically, these funds will enhance participation from: -"keynote" researchers leading scientific efforts in other disorders whose approaches and discoveries could inform WS; -trainees such as students and post-doctoral fellows, as well as promising young investigators; and -students, scientists, care providers, and research professionals who represent and serve minority communities or who have disabilities. The central goal of the meeting is to promote research and care pertaining to WS; accordingly, the meeting will be structured to achieve this goal by promoting cross-talk, exchange of ideas, and potential collaborations amongst all participants. R13 funds will allow a far greater range and diversity of meetings attendees. This will have both short term benefits (jump-starting research and possible therapeutic strategies) and also long term benefits (sustaining, even expanding, intellectual inquiry at the highest level).

描述（由申请人提供）：本R13申请是一项资金请求，以提供部分支持两年一度的威廉姆斯综合征（WS）国际科学和专业会议，WS是一种由7q11.32上数百万碱基对的染色体微缺失引起的特征明显的神经发育障碍。WS的影响远大于其患病率（约1/7500人），因为它可作为绘制医学、认知和行为基因型-表型相关性的模型障碍。 其母组织威廉姆斯综合征协会（WSA）早在25年前就认识到，鼓励研究最终会使他们患有WS的孩子受益。出于几个原因，其中最主要的是最近在理解和治疗其他基于遗传的神经发育障碍方面的进展，现在是这个会议超越父母群体所能维持的发展的正确时机。 所申请的R13资金将用于扩大2012年、2014年和2016年WS国际科学和专业会议的规模，使其超出现有的基金会（该基金会将继续得到WSA的资金支持）。具体而言，这些资金将提高参与：-“基调”研究人员领导的其他疾病的方法和发现可以告知WS的科学努力; -学员，如学生和博士后研究员，以及有前途的年轻研究人员;和-学生，科学家，护理人员和代表和服务少数群体社区或残疾人的研究专业人员。 会议的中心目标是促进与WS相关的研究和护理;因此，会议将通过促进所有参与者之间的交流，思想交流和潜在合作来实现这一目标。R13基金将使会议与会者的范围和多样性大大增加。这既有短期的好处（启动研究和可能的治疗策略），也有长期的好处（维持，甚至扩大最高水平的智力探究）。