The NeuroDev study, initiated in August 2018, is a collaborative research effort involving institutions in South Africa, Kenya, and the United States, including the University of Cape Town, KEMRI-Wellcome Trust Research Programme, Oxford University, Aga Khan University, Stanley Center for Psychiatric Research at the Broad Institute and institutions affiliated with the Broad Institute of MIT and Harvard. Its primary focus is on expanding the knowledge of neurodevelopmental disorders (NDDs) in Africa through large-scale genetic research. By collecting and analyzing genetic data from children with NDDs, such as autism spectrum disorder, the study seeks to uncover the genetic factors that contribute to these conditions.

Historically, most genetic research has focused on European populations, leaving a critical gap in the knowledge about African genetic diversity. NeuroDev seeks to bridge this gap, ensuring that African populations are represented in global genomic research. By generating genetic data from both individuals with NDDs and individuals without NDDs of South African and Kenyan ancestry, the study is addressing a major missing piece in current genetic reference databases. This inclusivity not only enhances scientific understanding but also lays the foundation for more accurate diagnoses and better treatment options for children with NDDs in Africa.

NeuroDev is also committed to strengthening scientific capacity by supporting local researchers, developing biosample resources and fostering collaborations that strengthen the capacity of African institutions to expand their leadership in future genetic studies. The study also prioritizes ethical engagement with participants, ensuring that families are active partners in the research process. A key aspect of this commitment is returning individual genetic results to families. For many, a genetic diagnosis may provide clarity, helping them make informed decisions about their child’s care. Healthcare providers can use this information to anticipate medical and behavioral challenges, plan appropriate follow-up care and guide families toward specialized support services. Additionally, genetic findings can offer insight into recurrence risks, allowing families to make informed reproductive choices.

The findings from NeuroDev contribute to a better understanding of NDDs. By identifying rare genetic disorders, examining the range of ways NDDs affect individuals in African populations, and exploring how genetic differences contribute to variations in these conditions, the study is helping to improve neurodevelopmental research. Its findings will not only inform healthcare policies and improve diagnostic tools but also advocate for better resources and intervention strategies for children with NDDs across Africa.

To learn more about the study and its impact, visit the NeuroDev website.

The NeuroDev Research Study
2025

NeuroDev Funding acknowledgments: National Human Genome Research Institute; Simons Foundation, National Eye Institute; The National Heart, Lung, and Blood Institute; National Human Genome Research Institute.