Advances in genetics of Autism in African populations: Evolving concepts

ICNC2024
Symposia: Current Concepts In Autism Spectrum Disorder

Advances in genetics of Autism in African populations: Evolving concepts
Kirsten Donald

Empowered by genomic technologies and large data sharing efforts, human genetic studies are making rapid progress in identifying risk genes for ASD including across previously understudied geographies and populations. Despite the large clinical and genetic heterogeneity underlying ASD, genotype–phenotype correlations are starting to be identified by clustering patients based on their genetic background, a so-called genotype-first approach. The integration of genetics with clinical phenotypes in studies will lead to a better understanding of the molecular mechanisms involved in ASD across diverse populations and ultimately inform clinical care. Genome sequences from one of the first research cohorts of African children with autism and their families have revealed more than 4 million novel genetic variants, some of which occur in genes not previously linked to the condition. The combination of public and private interest in supporting research efforts, highly effective advocacy groups, the rapid evolution of genomic tools and methodologies, and a long-term investment in developing large DNA collections has already resulted in key findings and promises a flurry of important discoveries over the next several years.