SIMONS SIMPLEX COLLECTION

这个子项目是利用资源的许多研究子项目之一。 由NIH/NCRR资助的中心拨款提供。对子项目的主要支持 子项目的首席调查员可能是由其他来源提供的， 包括美国国立卫生研究院的其他来源。为子项目列出的总成本可能 表示该子项目使用的中心基础设施的估计数量， 不是由NCRR赠款提供给次级项目或次级项目工作人员的直接资金。 摘要 自闭症是一种复杂的发育障碍，出现在生命的前三年。它通常被定义为一种神经或大脑疾病，影响一个人的沟通、与他人建立关系和对环境做出适当反应的能力。据估计，每150人中就有1人患有自闭症谱系障碍(ASD)。这种情况在男孩中的发生率是女孩的四倍，但在任何种族、民族或社会群体中的发生率都不会更高。现在，来自双胞胎和家庭研究的有力证据表明，遗传因素在自闭症发展中的重要性，尽管这些影响也很明显是复杂的。DNA密码本身的改变可能会导致自闭症，也可能是其他类型的改变，即所谓的表观遗传因素，在不改变DNA密码本身的情况下影响蛋白质活性的水平。遗传和表观遗传变化可以是遗传的，也可以是自发的。 Simons Simplex Collection(SSC)的目标是更多地了解自闭症和相关障碍的分子基础。为了做到这一点，SSC正在创建一个血液样本和临床信息资源，研究人员可以在寻找基因和特定行为之间的联系时进行研究。数据将通过横跨北美的多站点网络收集，贝勒医学院(BCM)目前是其中13个站点之一。SSC将从似乎受到ASD影响的个人及其家庭成员那里收集以下信息和材料：(A)血液样本和(B)临床数据，包括医疗、诊断和家族史信息。行为、临床和有限遗传评估的目的是充分描述储存库样本的特征，并提供将来对储存库样本进行全面分析所需的数据。SSC将在新泽西州的罗格斯大学细胞和DNA储存库(RUCDR)存储生物材料。SSC将以加密的、受密码保护的形式将未识别的临床信息存储在西蒙斯基金会运行的中央数据库中。SSC将向想要研究自闭症和相关疾病的合格研究人员提供这些未确认的生物材料和临床数据。任何对这些材料的使用都将首先得到西蒙斯基金会的审查和批准。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. Primary support for the subproject and the subproject's principal investigator may have been provided by other sources, including other NIH sources. The Total Cost listed for the subproject likely represents the estimated amount of Center infrastructure utilized by the subproject, not direct funding provided by the NCRR grant to the subproject or subproject staff. ABSTRACT Autism is a complex developmental disability that appears during the first three years of life. It is commonly defined as a neurological or brain disorder that affects a persons ability to communicate, form relationships with others, and respond appropriately to the environment. Autism spectrum disorders (ASD) have been estimated to occur in as many as 1 in 150 individuals. They are four times more common in boys than in girls but show no greater occurrence in any racial, ethnic, or social group. There is now strong evidence from twin and family studies for the importance of genetic factors in the development of autism, although it is also clear that these influences are complex. It is possible that alterations in the DNA code itself contribute to autism, and it is also possible that other types of changes, known as epigenetic factors, influence the levels of protein activity without changing the DNA code itself. Genetic and epigenetic changes can be inherited or spontaneous. The goal of the Simons Simplex Collection (SSC) is to learn more about the molecular basis of autism and related disorders. To do this, the SSC is creating a resource of blood samples and clinical information that researchers can study as they search for connections between genes and specific behaviors. Data will be collected through a multisite network across North America, of which Baylor College of Medicine (BCM) is currently one of 13 sites. The SSC will gather the following information and materials from individuals who appear to be affected with ASD and their family members: (a) blood samples and (b) clinical data, including medical, diagnostic, and family history information. The purpose of behavioral, clinical and limited genetic evaluation is to fully characterize repository samples and provide data that will be necessary for comprehensive analysis of repository samples in the future. The SSC will store biomaterials at the Rutgers University Cell and DNA Repository (RUCDR) in New Jersey. The SSC will store de-identified clinical information in an encrypted, password-protected form in a central database run by The Simons Foundation. The SSC will make these de-identified biomaterials and clinical data available to qualified researchers who want to study autism and related disorders. Any use of these materials will first be reviewed and approved by the Simons Foundation.