INFRASTRUCTURE TO FACILITATE DISCOVERY OF AUTISM GENES

促进自闭症基因发现的基础设施

• 批准号: 6479090
• 负责人: Susan E. FOLSTEIN
• 金额: $ 81.07万
• 依托单位: TUFTS MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-09-30 至 2007-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6479090
• 关键词: autism; clinical research; cooperative study; family genetics; gene complementation; genetic disorder diagnosis; genome; genotype; human genetic material tag; human subject; information dissemination; information systems; linkage mapping; mental disorder diagnosis; neurogenetics; phenotype; platelets; serotonin; siblings; workshop

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.

描述（由申请人提供）：自闭症很可能是由 具有上位性的寡基因机制。因此，需要大量样本 找到贡献基因，并且将采用许多补充方法 需要。同胞对家庭的基因组筛查发现了一些一致的特征 感兴趣的染色体区域，但还有许多其他暗示性的 需要在更大样本中验证的信号。这样做的目的 应用程序是为了促进发现有助于的基因 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团体可以合作。这将是 通过研讨会、虚拟专用网络 (VPN) 和访问来完成 包含所有参与的表型和基因型数据的数据库 组。其他目标是开发并不断更新有关自闭症的信息 家庭和从业者的遗传学。将会有实质性的品质 控制，保证数据的准确性。 参与本次申请的六个小组一直在共同努力 18 个月的目标是建立有效的数据共享手段。任何 新的群体可以随时加入，只要他们的数据满足数量并且 申请中描述的质量标准。当前的组是 自闭症协作联系研究（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；公吨。 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 对于生病的孩子）；斯坦福大学；巴黎自闭症研究国际兄弟姐妹对 研究（巴黎和克雷泰伊的INSERM。瑞典哥德堡大学，本古里安 以色列大学和以色列耶路撒冷希伯来大学）。现在， 我们的集体样本有近 800 个兄弟姐妹家庭，还包括 表兄弟对和有联系的亲戚、叔叔/侄子和父亲/后代对， 三人组（一名先证者和父母双方）。 我们期望有一个论坛（虚拟的 - VPN 和数据库，以及实际的） - 研讨会）可以公开、轻松地分享信息 促进发现导致自闭症的基因。这 数据库将包含大量的家族和丰富的表型数据 这将允许根据共同的表型绘制子样本，例如 如大头畸形、功能性语言缺失、结构性缺失 语言异常，或对变革的抵制突出。