Williams Syndrome: International Scientific and Professional Conference

描述（由申请人提供）：本R13申请是为两年一次的威廉姆斯综合征（WS）国际科学与专业会议提供部分资金支持的请求，WS是一种由数百万碱基对的7q11.32上的染色体微缺失引起的特征明确的神经发育障碍。WS的影响远远大于其约1/7500人的患病率，因为它可以作为绘制医学，认知和行为基因型-表型相关性的模型疾病。家长组织威廉姆斯综合症协会（WSA）早在25年前就认识到，鼓励研究最终会使患有WS的孩子受益。为此目的，他们自1988年以来赞助了十几个小型科学/专业会议。有几个原因，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取得的进展，现在是时候让这次会议超出家长小组的承受能力。请求的R13资金将用于在现有基础（将继续得到WSA的资金支持）的基础上扩展2012年、2014年和2016年WS国际科学与专业会议。具体而言，这些基金将加强以下人员的参与：-领导其他疾病科学工作的“主题”研究人员，他们的方法和发现可以为WS提供信息；-学生和博士后等培训生，以及有前途的青年研究人员；学生、科学家、护理人员以及代表少数族裔社区或残疾人并为其服务的研究专业人员。会议的中心目标是促进与WS有关的研究和护理；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基金将允许更大范围和多样化的与会者。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索）。

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).