2/3 Akili: Phenotypic and genetic characterization of ADHD in Kenya and South Africa

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.

Grant Number: 5R01MH132965-03
NIH Institute/Center: NIH
Principal Investigator: Amina Ali