INFRASTRUCTURE TO FACILITATE DISCOVERY OF AUTISM GENES

描述（由申请人提供）：自闭症最有可能是由一个 上位性寡基因机制。因此，需要大量样本， 找到贡献基因，一些互补的方法将被 needed.同胞对家庭的基因组筛选已经确定了一些一致的 感兴趣的染色体区域，但也有许多其他暗示性的 需要在更大的样本中验证的信号。这样做的目的 应用是为了促进基因的发现，有助于 自闭症，通过发展和维护基础设施， 研究自闭症遗传学的团体可以合作工作。这将是 通过讲习班、虚拟专用网络（VPN）和访问 一个数据库，包括所有参与者的表型和基因型数据， 组其他目标是发展和不断更新有关自闭症的信息 遗传学为家庭和从业者。将有大量的质量 控制，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， 18个月的目标是建立一个有效的手段来共享数据。任何 新的组可以随时加入，只要他们的数据量满足要求， 在应用程序中描述的质量标准。目前的小组是 自闭症的合作联系研究（塔夫茨/新英格兰医学中心， 北卡罗来纳州查佩尔山大学、范德比尔特大学和 爱荷华州大学）;杜克大学和南卡罗来纳州大学;山。 加拿大纽约的西奈医学中心和都柏林的Trinity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）;斯坦福大学;巴黎自闭症研究国际兄弟姐妹对 在巴黎和克雷泰伊的研究（巴黎大学）。瑞典哥德堡大学，本-古里安 以色列耶路撒冷希伯来大学）。目前， 我们的集体样本数量近800个同胞对家庭，还包括 表兄弟姐妹和近亲，叔叔/侄子和父亲/后代对， 三人组（先证者一人，父母双方）。 我们希望有一个论坛（虚拟的-VPN和数据库，以及实际的 - 讲习班），在那里可以公开和容易地分享信息， 有助于发现导致自闭症的基因。的 数据库将包含大量的家庭和丰富的表型数据 这将允许基于共同表型抽取子样本， 如巨头症，功能性语言的缺乏，没有任何结构性 语言异常，或对改变的抵抗突出。

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.