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Genomic Analyses

基因组分析

基本信息

批准号：
10251951
负责人：
JEFFREY R GRUEN
金额：
$ 24.44万
依托单位：
UNIVERSITY OF COLORADO
依托单位国家：
美国
项目类别：
财政年份：
1996
资助国家：
美国
起止时间：
1996-12-01 至 2023-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10251951
关键词：
Affect Age Architecture Attention Attention deficit hyperactivity disorder Behavioral Biological Brain Characteristics Child Clinical Cognitive Collection Colorado Complex Cross-Sectional Studies Data Development Diagnosis Differential Diagnosis Environment Environmental Risk Factor Ethnic Origin Family Fostering Frequencies Funding Genes Genetic Genetic Markers Genetic study Genomics Goals Growth Heritability Image Individual Individual Differences Instruction Intervention Intervention Trial Knowledge Language Learning Learning Disabilities Longitudinal Studies Mathematics Measures Methods Molecular Neural Pathways Neurobiology Neurocognitive Neuropsychological Tests Neuropsychology Other Genetics Pathway interactions Performance Phenotype Population Heterogeneity Prospective cohort Race Reading Reading Disabilities Research Research Design Research Personnel Sampling Schools Siblings Socioeconomic Status Testing Variant base brain circuitry causal variant comorbidity conditioning disability risk endophenotype ethnic diversity ethnic minority population executive function gene environment interaction genetic variant genome wide association study genome-wide holistic approach imaging genetics improved mathematics disability neural network neuroimaging phonology pleiotropism processing speed racial minority rare variant relating to nervous system remediation sex skills targeted sequencing trait transmission process treatment response

项目摘要

PROJECT SUMMARY/ABSTRACT PROJECT IV: GENOMIC ANALYSES The overall theme of the Colorado Learning Disabilities Research Center (CLDRC) is that multiple different learning disabilities – including reading disability, math disability, and attention deficit hyperactivity disorder – frequently occur in the same individual as a result of deficits that affect multiple underlying functional domains. Some of these deficits affect a single domain such as phonological processing, and some affect multiple domains such as phonological processing and attention and processing speed. In the projects within the CLDRC, these functional domains will be characterized by their genetic and developmental characteristics and by their interactions with an individual’s environment. In Project IV, we focus on the genetic characteristics of these functional domains at the molecular level through several approaches. We hypothesize that some genetic variants specifically affect a single domain while other genetic variants affect multiple domains. To identify these genetic variants, we will continue our studies of CLDRC families through targeted sequencing in chromosomal regions in which we find genetic effects in a specific domain, and we will extend our search for genetic variants that have effects on multiple domains. We will modify methods for generating a learning disability risk score, based on genome-wide variation, that could be clinically useful and widely applicable regardless of race, ethnicity or sex. We will also examine individual and shared brain circuits that are critical for learning. We will identify the genes that help to determine how well these circuits are formed and function, and will relate these circuits and genes to the functional domains that they serve. Finally, in partnership with an on- going intervention trial for reading disability called the New Haven Lexinome Project, we will examine the genetic basis for differential rates of acquisition of reading skill, the influence of attention, and the interactions between the genetic and the environmental (instruction) effects in an ethnically diverse population of public school children. The overall goal of Project IV is to disentangle the individual and shared genetic, neurobiological, and environmental factors that underlie learning disabilities, and to foster development of useful strategies for diagnosis, for informing effective remediation and for developing interventions.

项目总结/摘要项目四：基因组分析科罗拉多学习障碍研究中心（CLDRC）的总体主题是，学习障碍-包括阅读障碍、数学障碍和注意力缺陷多动障碍- 由于影响多个潜在功能域的缺陷，经常发生在同一个体中。其中一些缺陷影响单个领域，如语音处理，而另一些则影响多个领域。例如语音处理、注意力和处理速度。在项目中， CLDRC，这些功能结构域将通过其遗传和发育特征来表征，通过它们与个体环境的相互作用。在项目IV中，我们重点研究了这些功能域在分子水平上通过几种方法。我们假设一些遗传变异特异性地影响单个结构域，而其它遗传变异影响多个结构域。到鉴定这些遗传变异，我们将继续通过靶向测序对CLDRC家族进行研究，染色体区域，我们发现在一个特定的域的遗传效应，我们将扩大我们的搜索，影响多个领域的遗传变异。我们将修改生成学习的方法基于全基因组变异的残疾风险评分，可能在临床上有用并广泛适用不分种族、民族或性别。我们还将研究个体和共享的大脑回路，这些回路对学习我们将确定有助于确定这些回路形成和功能的基因，将这些电路和基因与它们所服务的功能域联系起来。最后，在一个合作伙伴- 正在进行的阅读障碍干预试验称为纽黑文Lexinome项目，我们将研究阅读技能获得率差异的遗传基础、注意力的影响及其相互作用遗传和环境（指令）之间的影响，在一个种族多样化的人口的公共学生。项目四的总体目标是解开个人和共享的遗传，神经生物学和环境因素的基础学习障碍，并促进发展，有效的诊断战略，为有效的补救措施提供信息，并制定干预措施。