INFRASTRUCTURE TO FACILITATE DISCOVERY OF AUTISM GENES

描述(由申请人提供)：自闭症最有可能由 具有上位性的寡聚发生机制。因此，将需要大样本来 找到起作用的基因，就会有一些互补的方法 需要的。同胞对家族的基因组筛查发现了几个一致的 感兴趣的染色体区域，但还有许多其他提示 需要在更大的样本中验证的信号。这样做的目的是 应用是为了促进发现有助于发现 自闭症，通过开发和维护研究基础设施 研究自闭症遗传学的小组可以合作。这将是 通过研讨会、虚拟专用网络(VPN)和访问 包含所有参与者的表型和基因数据的数据库 组。其他目标是开发和不断更新有关自闭症的信息 家庭和从业者的遗传学。将会有相当高的质量 控件以确保数据的准确性。 参与这项申请的六个小组一直在共同努力 距离建立共享数据的有效手段的目标还有18个月的时间。任何 新的组可以随时加入，只要他们的数据满足数据量和 申请书中描述的质量标准。当前的组是 自闭症的协作性链接研究(塔夫茨/新英格兰医学中心， 北卡罗来纳大学教堂山分校、范德比尔特大学和 爱荷华大学)；杜克大学和南卡罗来纳大学； 纽约西奈医学中心和加拿大都柏林三一大学 自闭症遗传学(麦克马斯特大学和多伦多大学/医院 为患病儿童提供帮助)；斯坦福大学；巴黎自闭症研究国际兄弟姐妹 在巴黎和克里特岛学习(INSERM)。瑞典哥德堡大学，本-古里安 以色列希伯来大学和以色列耶路撒冷希伯来大学)。目前， 我们的集体样本有近800个同胞配对家庭，还包括 表亲和亲属，叔叔/侄子和父亲/子女对， 三人(一个先证者和双亲)。 我们希望有一个论坛(虚拟的-VPN和数据库，以及实际的 -研讨会)，在那里可以公开和轻松地分享信息 促进发现导致自闭症的基因。这个 数据库将包含大量的家系和丰富的表型数据 这将允许根据共同的表型来抽取子样本，例如 由于大头症，没有功能语言，没有任何结构性的 语言异常，或对变化的抵触情绪突出。

DESCRIPTION (provided by applicant): Autism is most likely inherited by an oligogenic mechanism with epistasis. Thus, large samples will be required to locate the contributing genes, and a number of complementary methods will be needed. Genome screens of sib pair families have identified a few consistent chromosomal regions of interest, but there are numerous other suggestive signals that need to be verified in much larger samples. The purpose of this application is to facilitate the discovery of the genes that contribute to autism, by developing and maintaining an infrastructure by which research groups studying the genetics of autism can work collaboratively. This will be accomplished through workshops, a Virtual Private Network (VPN), and access to a database that includes phenotype and genotype data from all participating groups. Other goals are to develop and continually update information on autism genetics for families and practitioners. There will be substantial quality control to assure the accuracy of the data. The six groups participating in this application have been working together for 18 months toward the goal of establishing an effective means to share data. Any new group may join at any time, as long as their data meet the volume and quality standards described in the application. The current groups are the Collaborative Linkage Study of Autism (Tufts/New England Medical Center, University of North Carolina at Chapel Hill, Vanderbilt University and the University of Iowa); Duke University and the University of South Carolina; Mt. Sinai Medical Center in New York and Trinity University in Dublin, Canadian Autism Genetics (McMaster University, and the University of Toronto/Hospital for Sick Children); Stanford; the Paris Autism Research International Sib-pair Study (INSERM in Paris and Creteil. Goteborg University in Sweden, Ben-Gurion University in Israel and Hebrew University of Jerusalem in Israel). Currently, our collective sample numbers nearly 800 sib pair families and also includes cousin pairs and connecting relatives, uncle/nephew and father/offspring pairs, trios (one proband and both parents). We expect that having a forum (both virtual - the VPN and database, and actual - the workshops) where information can be shared openly and easily will facilitate the discovery of genes contributing to the cause of autism. The database will contain large numbers of families and a wealth of phenotype data which will allow the drawing of sub-samples based on a common phenotype, such as macrocephaly, absence of functional language, absence of any structural language abnormality, or prominence of resistance to change.