Molecular Genetics of Language and Related Cognition in Families

家庭语言和相关认知的分子遗传学

基本信息

项目摘要

DESCRIPTION (provided by applicant): Quantitative genetic studies have consistently demonstrated a heritable component for specific language impairment (SLI). However, only a handful of groups have begun assessing the genetic epidemiology of SLI. In a previous phase of our ongoing research, we found compelling evidence for a risk polymorphism within 13q21-22, which was subsequently replicated. However, the specific susceptibility allele that acts to increase risk for SLI within 13q21 region has not yet been identified. Equally important, previous studies have not examined the genetic etiology or etiologies of SLI in the context of the multiple, quantitatively distributed underlying language processes that may lead to SLI. Thus, the relationship between the substantial clinical heterogeneity among individuals with SLI and concomitant genetic heterogeneity remains largely unexplored. The goal of this application, therefore, is to address three specific aims. We proposed to localize SLI susceptibility alleles by applying a combination of multi-level approaches. We will use bioinformatics and molecular approaches to identify possible susceptibility-allele-harboring sequences within 13q21 (Aim 1). We will extend our family collection to increase power to detect novel SLI loci and SLI-related QTLs (Aim 2). We will employ new multivariate approaches which are expected to better refine our localization, increase power, and allow us to examine these loci in the multivariate context of several underlying language processes from the SLI literature (Aim 3). These aims are important because they link genetic analysis with the multiple cognitive pathways that may lead to SLI in the hopes of better identification and treatment. PUBLIC HEALTH RELEVANCE: Specific language impairment is a common disorder; approximately 5-7 percent of school age children meet criteria for specific language impairment and collectively these children represent the largest portion of pupils receiving special education services within the nation's public school system. Understanding the variety of genetic risk factors and negatively influences language development may lead to earlier identification and hence earlier treatment, and may also help in the development of new therapeutic approaches based on the underlying neurobiology.
描述(由申请人提供):定量遗传学研究一致证明特定语言障碍(SLI)具有遗传因素。然而,只有少数团体开始评估 SLI 的遗传流行病学。在我们正在进行的研究的前一阶段,我们发现了 13q21-22 内风险多态性的令人信服的证据,该证据随后被复制。然而,尚未确定 13q21 区域内增加 SLI 风险的特定易感性等位基因。同样重要的是,之前的研究并未在可能导致 SLI 的多种、定量分布的潜在语言过程的背景下研究 SLI 的遗传病因或病因。因此,SLI 个体之间显着的临床异质性与伴随的遗传异质性之间的关系在很大程度上仍未被探索。因此,该应用程序的目标是解决三个具体目标。我们建议通过应用多层次方法的组合来定位 SLI 易感性等位基因。我们将使用生物信息学和分子方法来识别 13q21 内可能存在的易感性等位基因序列(目标 1)。我们将扩展我们的家族收藏,以增强检测新 SLI 位点和 SLI 相关 QTL 的能力(目标 2)。我们将采用新的多变量方法,这些方法有望更好地完善我们的本地化,提高能力,并允许我们在 SLI 文献中的几个底层语言过程的多变量上下文中检查这些位点(目标 3)。这些目标很重要,因为它们将基因分析与可能导致 SLI 的多种认知途径联系起来,以期更好地识别和治疗。 公共卫生相关性:特定语言障碍是一种常见疾病;大约 5-7% 的学龄儿童符合特定语言障碍的标准,这些儿童共同构成了国家公立学校系统内接受特殊教育服务的学生的最大部分。了解各种遗传风险因素和对语言发展的负面影响可能会导致更早识别,从而更早治疗,并且还可能有助于开发基于基础神经生物学的新治疗方法。

项目成果

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Christopher Wiliam Bartlett其他文献

Christopher Wiliam Bartlett的其他文献

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{{ truncateString('Christopher Wiliam Bartlett', 18)}}的其他基金

Molecular Genetics of Language and Related Cognition in Families
家庭语言和相关认知的分子遗传学
  • 批准号:
    8642624
  • 财政年份:
    2010
  • 资助金额:
    $ 70.29万
  • 项目类别:
Molecular Genetics of Language and Related Cognition in Families
家庭语言和相关认知的分子遗传学
  • 批准号:
    8035976
  • 财政年份:
    2010
  • 资助金额:
    $ 70.29万
  • 项目类别:
Molecular Genetics of Language and Related Cognition in Families
家庭语言和相关认知的分子遗传学
  • 批准号:
    8448655
  • 财政年份:
    2010
  • 资助金额:
    $ 70.29万
  • 项目类别:

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Molecular Genetics of Language and Related Cognition in Families
家庭语言和相关认知的分子遗传学
  • 批准号:
    8642624
  • 财政年份:
    2010
  • 资助金额:
    $ 70.29万
  • 项目类别:
Molecular Genetics of Language and Related Cognition in Families
家庭语言和相关认知的分子遗传学
  • 批准号:
    8035976
  • 财政年份:
    2010
  • 资助金额:
    $ 70.29万
  • 项目类别:
Molecular Genetics of Language and Related Cognition in Families
家庭语言和相关认知的分子遗传学
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    8448655
  • 财政年份:
    2010
  • 资助金额:
    $ 70.29万
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  • 批准号:
    6191110
  • 财政年份:
    2000
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    $ 70.29万
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TUMOR SUPPRESSOR GENE AT 13Q21 IN PROSTATE CANCER
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    6655056
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