ACC：胼胝体发育不全是了解常见神经发育障碍的窗口-猫眼课题宝

ACC：胼胝体发育不全是了解常见神经发育障碍的窗口

批准号：

8889103

负责人：

William B. Dobyns

金额：

$71.79万

依托单位：

UNIVERSITY OF CALIFORNIA, SAN FRANCISCO

依托单位国家：

美国

项目类别：

财政年份：

2008

资助国家：

美国

项目状态：

已结题

起止时间：

2008-03-01 至 2020-04-30

来源：

https://reporter.nih.gov/project-details/8889103

关键词：

Affect Anatomy Animal Model Autistic Disorder Axon Biological Assay Biology Brain Brain imaging Budgets California Candidate Disease Gene Cell Line Cerebral Palsy Cerebral hemisphere Clustered Regularly Interspaced Short Palindromic Repeats Collaborations Complex Congenital Abnormality Congenital cerebellar hypoplasia Corpus Callosum Coupled Cutaneous DNA Data Development Embryo Epilepsy Event Fiber Foundations Funding Gene Expression Gene Silencing Genes Genetic Genetic Variation Genome Genotype Goals Grant Hand Histology Human Incidence Individual Inherited Intellectual functioning disability Knock-in Mouse Knockout Mice Lead Left Link Malignant Neoplasms Methodology Modeling Molecular Monitor Mutant Strains Mice Mutation Neurodevelopmental Disorder Neurons Participant Pathway interactions Patient Care Patients Pediatric Hospitals Phenotype Play Population Principal Investigator Probability Public Health Recurrence Research Personnel Role Sampling Schizophrenia Sequence Analysis Side Somatic Mutation Staging Structure Syndrome Technology Testing Tissues United States National Institutes of Health Variant autism spectrum disorder base clinical phenotype cohort critical developmental period design exome gene discovery genome sequencing human data insight interest mouse model mutant novel periventricular heterotopia population based postnatal programs public health relevance targeted sequencing tool transmission process

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中文摘要

翻译

描述(申请人提供)：人类大脑中最大的纤维束--胼胝体--连接并整合了两个大脑半球。痴呆体发育不全(ACC)影响1/3-5,000人，发生在罕见的综合征和常见的神经发育障碍中，如智力残疾、自闭症、癫痫、脑瘫和精神分裂症。最近的证据表明，遗传变异在ACC和相关的神经发育障碍中起着关键作用，并且这些遗传原因是重叠的。然而，对于大多数受影响的个人来说，原因尚不清楚。在这里，我们建议利用我们大量且定义明确的ACC受试者的力量，以及从动物模型获得的洞察力和基因组技术的最新进展来(1)发现导致罕见ACC综合征的新基因，(2)发现导致或促成孤立和神经发育障碍相关ACC的新基因，以及(3)利用小鼠模型对候选基因进行功能确认。

英文摘要

DESCRIPTION (provided by applicant): The corpus callosum - the largest fiber tract in the human brain - connects and integrates the two cerebral hemispheres. Agenesis of the corpus callosum (ACC) affects 1 in 3-5,000 individuals, and occurs in both rare syndromes and common neurodevelopmental disorders such as intellectual disability, autism, epilepsy, cerebral palsy and schizophrenia. Recent evidence shows that genetic variation plays a critical role in ACC and in associated neurodevelopmental disorders, and that these genetic causes overlap. Yet for most affected individuals the causes are not known. Here we propose to leverage the power of our large and well-defined cohort of ACC subjects coupled with insights gained from animal models and recent advances in genome technology to (1) discover novel genes that cause rare ACC syndromes, (2) discover novel genes that cause or contribute to isolated and neurodevelopmental disorder-associated ACC, and (3) utilize mouse models to conduct functional confirmation of candidate genes.

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