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：

9269256

负责人：

William B. Dobyns

金额：

$67.79万

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/9269256

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 Etiology 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 Knockout Mice Lead Left Link Malignant Neoplasms Methodology Modeling Molecular Monitor Mosaicism 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 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 phenotypic data population based postnatal programs public health relevance targeted sequencing tool tractography transmission process whole genome

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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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