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

3/3 Akili：肯尼亚和南非 ADHD 的表型和遗传特征

基本信息

批准号：
10645433
负责人：
Kirsty Donald
金额：
$ 54万
依托单位：
UNIVERSITY OF CAPE TOWN
依托单位国家：
美国
项目类别：
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/10645433
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

项目摘要

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.

项目摘要多动症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。诊断与教育，占领和健康面临的许多挑战有关结果，尤其是在未经治疗的情况下。多动症的遗传研究有可能阐明该疾病生物基础，异质性及其与其他神经精神诊断的关系。然而，对ADHD滞后的遗传研究以：（1）样本量，（2）祖先多样性和（3）考虑表型异质性。 Akili旨在解决这三个关键差距。 akili（斯瓦希里语的术语 “ Mind”）将在肯尼亚和南非招募6,000名儿童 - 4,000名，并确定诊断为多动症和 2,000年龄和祖先匹配的对照。所有参与者将完成详细的行为，认知和医疗表型电池，并提供DNA样品。我们将普遍描述所有6,000名参与者使用外显子组测序和全基因组的基因分型，并公开制作所有Akili数据和材料可通过NIMH获得。 Akili数据几乎将是可用于外显子的ADHD案例数量的两倍测序分析，并为当前的PGC-ADHD GWAS活性提供20％的添加。到目前为止 Divers Ancestry数据的最大贡献者对任何一个分析。 Akili将产生一个研究资源国际价值，并在非洲背景下提供ADHD的第一个大规模特征。