SIMONS SIMPLEX COLLECTION

SIMONS SIMPLEX 系列

• 批准号: 8356697
• 负责人: Robin P. Kochel
• 金额: $ 14.48万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-12-01 至 2011-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8356697
• 关键词: Affect; Autistic Disorder; Behavior; Behavioral; Biocompatible Materials; Blood specimen; Brain Diseases; Cells; Clinical; Clinical Data; Clinical Research; Code; Collection; Complex; DNA; Data; Databases; Development; Developmental Disabilities; Diagnostic; Disease; Environment; Epigenetic Process; Ethnic group; Evaluation; Family; Family Study; Family member; Foundations; Funding; Future; Genes; Genetic; Goals; Grant; Individual; Inherited; Learning; Life; Medical; Medicine; Molecular; Mutation; National Center for Research Resources; New Jersey; North America; Persons; Principal Investigator; Proteins; Qualifying; Race; Recording of previous events; Research; Research Infrastructure; Research Personnel; Resources; Running; Sampling; Site; Source; Time; Twin Studies; United States National Institutes of Health; Universities; autism spectrum disorder; base; boys; college; cost; girls; nervous system disorder; repository; social group

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.

该子项目是利用资源的众多研究子项目之一 由 NIH/NCRR 资助的中心拨款提供。子项目的主要支持 并且子项目的主要研究者可能是由其他来源提供的， 包括其他 NIH 来源。 子项目可能列出的总成本 代表子项目使用的中心基础设施的估计数量， NCRR 赠款不直接向子项目或子项目工作人员提供资金。 抽象的 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，影响一个人沟通、与他人建立关系以及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)。男孩的发病率是女孩的四倍，但在任何种族、民族或社会群体中的发生率并没有更高。现在，双胞胎和家庭研究提供了强有力的证据，证明遗传因素在自闭症发展中的重要性，尽管这些影响很复杂，这一点也很清楚。 DNA 密码本身的改变可能会导致自闭症，也有可能其他类型的变化（称为表观遗传因素）在不改变 DNA 密码本身的情况下影响蛋白质活性水平。遗传和表观遗传变化可以是遗传的或自发的。 Simons Simplex Collection (SSC) 的目标是更多地了解自闭症和相关疾病的分子基础。为此，SSC 正在创建血液样本和临床信息资源，研究人员在寻找基因和特定行为之间的联系时可以对其进行研究。数据将通过遍布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 将从疑似患有自闭症谱系障碍 (ASD) 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表征储存库样本，并提供未来对储存库样本进行综合分析所需的数据。 SSC 将在新泽西州罗格斯大学细胞和 DNA 存储库 (RUCDR) 储存生物材料。 SSC 将以加密、受密码保护的形式将去识别化的临床信息存储在西蒙斯基金会运营的中央数据库中。 SSC 会将这些去识别化的生物材料和临床数据提供给想要研究自闭症和相关疾病的合格研究人员。对这些材料的任何使用都将首先经过西蒙斯基金会的审查和批准。