Advancing neurogenetics in Africa: past achievements, current developments and shaping the future

Hereditary neurological diseases (HNDs), referring to monogenic forms of neurological diseases, can cause substantial debilitation in affected individuals. They particularly impact developing nations, where the burden of disease is reflected in a high number of disability-adjusted life years lost. In African populations, despite rich genetic diversity, high fertility rates and prevalent consanguinity, genetic research remains under-explored. However, studying these communities holds the promise of uncovering key genes and variants that are essential for understanding both normal and abnormal nervous system functions. The rise of advanced sequencing technologies has enabled the identification of the causative factors underlying numerous hereditary diseases. Yet, many people with HNDs, especially in under-studied African populations, still lack a molecular diagnosis. Initiatives such as H3Africa, backed by the US National Institutes of Health, the Wellcome Trust and the Alliance for Accelerating Excellence in Science in Africa, are helping to bridge this gap by empowering African scientists to lead groundbreaking genetic research. This Review highlights the spectrum of HNDs observed in African populations and explores the unique challenges and opportunities in this field. By reflecting on the current state of neurogenetics in Africa and outlining future directions, we aim to inspire progress towards improved health care for those affected by HNDs on the continent.