Williams Syndrome: International Scientific and Professional Conference

描述(由申请人提供)：这份R13申请是为两年一度的威廉姆斯综合征(WS)国际科学与专业会议(WS)提供部分支持的资金申请，WS是一种由数百万个碱基对中7q11.32上的染色体微缺失引起的具有良好特征的神经发育障碍。WS的影响远远大于其患病率约1/7500人，因为它是得出医学、认知和行为基因-表型相关性的模型障碍。母组织威廉姆斯综合征协会(WSA)在25年前就认识到，鼓励研究最终将使他们患有WS的孩子受益。为此，自1988年以来，他们赞助了十几次小型科学/专业会议。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基因的神经发育障碍方面的进展，现在是这次会议发展到超出父母群体所能承受的范围的合适时机。申请的R13资金将用于扩大2012、2014和2016年WS国际科学和专业会议的现有基础(该基金会将继续由WSA提供资金支持)。具体地说，这些基金将加强以下方面的参与：-“主旨”研究人员领导其他疾病的科学努力，他们的方法和发现可以为WS提供信息；-受训人员，如学生和博士后研究员，以及有前途的年轻研究人员；以及-代表和服务少数群体社区或残疾的学生、科学家、护理提供者和研究专业人员。会议的中心目标是促进与WS有关的研究和关怀；因此，会议的结构将通过促进所有参与者之间的相互交谈、思想交流和潜在的合作来实现这一目标。R13基金将使与会者的范围和多样性大大增加。这将既有短期的好处(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研究)。

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).