Genetics Core

遗传学核心

• 批准号: 8931785
• 负责人: DAVID VALLE
• 金额: $ 14.41万
• 依托单位: HUGO W. MOSER RES INST KENNEDY KRIEGER
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-09-23 至 2019-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8931785
• 关键词: Behavior Disorders; Behavioral; Cell Line; Cognitive; Core Facility; Cytogenetic Analysis; Development; Developmental Delay Disorders; Developmental Disabilities; Etiology; Fluorescent in Situ Hybridization; Genetic; Genomics; Genotype; Institution; Intellectual functioning disability; Karyotype; Medical; Mental Retardation and Developmental Disabilities Research Centers; Morbidity - disease rate; Mutation Analysis; Natural History; Other Genetics; Parents; Phenotype; Research Support; Resources; Role; Services; Single Nucleotide Polymorphism; Variant; gene discovery; neuropsychiatry; outcome forecast; tissue culture

The objective of the Genetics Core is to support research to better understand the role of genetic factors associated with normal and abnormal physical, cognitive and/or behavioral development. Supported research focuses on etiology, natural history and prognosis of a variety of conditions associated with developmental delay, neuropsychiatric disorders, and behavioral and physical features of developmental disabilities. These include phenotypic variations associated with genomic copy number changes, enzymatic deficiencies and new therapies, gene discovery, mutation analysis, genotype-phenotype correlation, and the role of copy number changes in morbidity. The services provided by the Genetics Core include: (1) cell line establishment and tissue culture, (2) cytogenetic analysis, namely karyotype and fluorescence in situ hybridization, (3) single nucleotide polymorphism microarray, and (4) identification of regions with genomic homozygosity and parent of origin for genomic abnormalities. The Core also serves as an interface for IDDRC-supported projects with the resources of the other Genetics Core facilities established within the Johns Hopkins Medical Institutions.

遗传学核心的目的是支持研究以更好地了解遗传的作用 与正常和异常的身体，认知和/或行为发展相关的因素。支持 研究重点介绍了与 发育延迟，神经精神疾病以及发育的行为和身体特征 残疾。其中包括与基因组拷贝数变化相关的表型变化，酶促变化 缺陷和新疗法，基因发现，突变分析，基因型 - 表型相关性和 拷贝数变化发病率的作用。遗传学核心提供的服务包括：（1）单元线 建立和组织培养，（2）细胞遗传学分析，即核型和荧光原位 杂交，（3）单核苷酸多态性微阵列，（4）鉴定具有基因组的区域 纯合性和基因组异常的起源父母。该核心还可以作为IDDRC支持项目的接口 霍普金斯医疗机构。