Genetic Epidemiology of Autism Spectrum Disorders

自闭症谱系障碍的遗传流行病学

• 批准号: 7676211
• 负责人: Young Shin Kim
• 金额: $ 17.82万
• 依托单位: YALE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-08-15 至 2012-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7676211
• 关键词: Adolescent; Affect; Age; Arts; Asperger Syndrome; Autistic Disorder; Bioinformatics; Biological; Blood; Candidate Disease Gene; Categories; Caucasians; Caucasoid Race; Cell Line; Child; Childhood; Cognitive deficits; Communication; Communities; Complex; Computing Methodologies; DNA; DSM-IV; Data; Databases; Development; Diagnosis; Diagnostic; Disease; Dysmorphology; Environment; Environmental Exposure; Environmental Risk Factor; Epidemiologic Studies; Epidemiologist; Epidemiology; Event; Exposure to; Family; Family history of; Funding; Generations; Genetic; Genetic Population Study; Genetic Variation; Genotype; Goals; Grant; Haplotypes; Impairment; Individual; Intervention; Knowledge; Korea; Koreans; Lead; Maps; Matched Case-Control Study; Mentors; Methods; Molecular; Molecular Genetics; Neurobiology; Neurologic; Neuropsychological Tests; Parental Ages; Patient Care; Perinatal; Pervasive Development Disorder; Phenotype; Population; Predisposition; Prevalence Study; Prevention; Preventive Intervention; Principal Investigator; Process; Psychiatrist; Psychopathology; Public Health; Recording of previous events; Recruitment Activity; Relative (related person); Research; Research Design; Research Infrastructure; Research Proposals; Resources; Rett Syndrome; Risk; Role; Sampling; Schools; Screening procedure; Secure; Shipping; Ships; Smoke; Specific qualifier value; Specimen; Staging; Stereotyped Behavior; Syndrome; Techniques; Testing; Thyroid Function Tests; Training; Transcript; Translating; Translational Research; Variant; autism spectrum disorder; base; childhood disintegrative disorder; cohort; cooking; endophenotype; functional genomics; gene environment interaction; genetic association; genetic epidemiology; genetic pedigree; genetic variant; genome wide association study; improved; indium arsenide; interest; neuropsychiatry; neuropsychological; peer victimization; prenatal smoking; proband; programs; sex; skills; social; social reciprocity; transmission process

DESCRIPTION (provided by applicant): The candidate is a child and adolescent psychiatrist and an epidemiologist with limited training in molecular genetics, statistical genetics/bioinformatics and autism who wishes to develop her capacity to conduct independent genetic epidemiology research in developmental psychopathology and genome-wide association studies. The overall goal of this proposal is to develop expertise in genetic epidemiology; an integrated, interdisciplinary translational science that combines epidemiology, functional genomics, molecular genetics, high-throughput genotyping, bioinformatics and specialized computational methods. This expertise is needed to help uncover disease mechanisms and translate acquired knowledge to the prevention and interventions for complex diseases such as Autism Spectrum Disorder (ASD). These skills will be acquired and enhanced through close relationships with mentors and by carefully planned integrated and interfacing coursework and mentored research. Educational goals of this proposal are to develop new skill sets through tutorials and coursework: 1) to develop a conceptual framework for studying population genetics (Kenneth Kidd), rare genetic variant approach and genetic mechanisms in disease processes (Matthew State) and common genetic variant approach in developmental psychopathology (Edwin Cook); 2) to develop computational skills for analyzing intensive and complex genetic epidemiological databases and to develop bioinformatics skills for managing massive, complex sets of interactive genetic data (Hongyu Zhao); 3) to understand phenotype, endophenotype, trajectory and neurobiology of ASD (Fred Volkmar); and, 4) to apply a translational scientific approach to the knowledge generated from the proposed research by examining its public health significance and its implication for screening, diagnoses and intervention (James Leckman). The research proposal includes three specific aims relating directly to the training goals: 1) to maintain and expand the Korean epidemiological cohort (in an enthinically and genetically disctinictive Korean population) already established as a part of an Autism Speaks-funded grant, 2) to collect comprehensive phenotype data on the Korean sample, and 3) to test the association of three candidate genes in a two-stage association study design with an internal replication sample, which will in turn allow for generation and testing of hypotheses about gene-environment interactions in ASD. This proposal takes an advantages of a rare opportunity to enrich an ongoing study while supporting an expansion of the applicant's research skills and abilities.

描述（由申请人提供）：该候选人是一名儿童和青少年精神病学家和流行病学家，在分子遗传学，统计遗传学/生物信息学和自闭症方面受过有限的培训，希望发展她在发育精神病理学和全基因组关联研究方面进行独立遗传流行病学研究的能力。