1/3 Akili: Phenotypic and genetic characterization of ADHD in Kenya and South Africa

1/3 Akili：肯尼亚和南非 ADHD 的表型和遗传特征

• 批准号: 10633772
• 负责人: Elise B Robinson
• 金额: $ 78.7万
• 依托单位: BROAD INSTITUTE, INC.
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-08-01 至 2028-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10633772
• 关键词: Acceleration; Address; Africa; African; Age; Architecture; Area; Attention; Attention deficit hyperactivity disorder; Award; Behavioral; Biological; Caring; Child; Clinical; Cognitive; Collection; DNA; Data; Data Collection; Development; Diagnosis; Disease; Education; Enrollment; Ensure; Equity; European ancestry; Fruit; Funding; Generalized Anxiety Disorder; Genes; Genetic; Genetic Research; Genetic Risk; Genetic study; Genomics; Genotype; Goals; Health; Heterogeneity; Hyperactivity; Impulsivity; Intellectual functioning disability; International; Interview; Kenya; Lead; Leadership; Link; Maps; Medical; Medical History; Mind; Mood Disorders; National Institute of Mental Health; Neurodevelopmental Disorder; Occupational; Outcome; Parents; Participant; Phenotype; Population; Raven; Research; Resources; Saliva; Sample Size; Sampling; Schedule; School-Age Population; Scientist; Severities; Site; South Africa; South African; Speed; Students; Sustainable Development; Training; United States; Variant; Work; autism spectrum disorder; case control; clinically relevant; cohort; design; diagnostic criteria; doctoral student; executive function; exome; exome sequencing; gene discovery; genetic architecture; genome wide association study; genome-wide; improved; insight; member; neuropsychiatric disorder; neuropsychiatry; non-verbal; phenotypic data; polygenic risk score; psychiatric genomics; rare variant; recruit; risk sharing; risk variant; sex; skills; social; success; tool; trait

PROJECT SUMMARY ADHD is a common neurodevelopmental disorder that includes attention difficulty, impulsivity, and hyperactivity. The diagnosis is associated with many challenges to educational, occupational, and health outcomes, particularly when untreated. Genetic studies of ADHD have the potential to clarify the disorder’s biological underpinnings, its heterogeneity, and its relationship to other neuropsychiatric diagnoses. However, genetic research into ADHD lags in terms of: (1) sample size, (2) ancestral diversity, and (3) consideration of phenotypic heterogeneity. Akili is designed to address all three of these critical gaps. Akili (the Swahili term for “mind”) will enroll 6,000 children in Kenya and South Africa – 4,000 with a confirmed diagnosis of ADHD and 2,000 age- and ancestry-matched controls. All participants will complete a detailed behavioral, cognitive, and medical phenotyping battery, and provide a DNA sample. We will genetically characterize all 6,000 participants using exome sequencing and genome-wide genotyping, and make all Akili data and materials publicly available through the NIMH. Akili data will nearly double the number of ADHD cases available for exome sequencing analysis and provide a 20% addition to the current PGC-ADHD GWAS activity. It will be by far the largest contributor of diverse ancestry data to either analysis. Akili will generate a research resource of international value, and provide the first large-scale characterization of ADHD in the African context.

项目概要 ADHD 是一种常见的神经发育障碍，包括注意力困难、冲动和 多动症的诊断与教育、职业和健康方面的许多挑战有关。 多动症的基因研究有可能阐明这种疾病的病因。 然而，其生物学基础、异质性及其与其他神经精神病学诊断的关系。 对多动症的遗传学研究在以下方面滞后：（1）样本量，（2）祖先多样性，以及（3）考虑 Akili 旨在解决所有这三个关键差距。 “mind”）将在肯尼亚和南非招募 6,000 名儿童，其中 4,000 名被确诊患有 ADHD 和 2,000 个年龄和血统匹配的对照。所有参与者都将完成详细的行为、认知和认知测试。 医学表型分析电池，并提供 DNA 样本，我们将对所有 6,000 名参与者进行基因特征分析。 使用外显子组测序和全基因组基因分型，并公开 Akili 的所有数据和材料 通过 NIMH 获得的数据将使外显子组可用的 ADHD 病例数几乎增加一倍。 测序分析并为当前的 PGC-ADHD GWAS 活动提供 20% 的补充。 Akili 对任一分析的不同血统数据的最大贡献者将生成以下研究资源。 具有国际价值，并首次在非洲背景下大规模描述多动症的特征。