Rare Genetic Disorder Strikes Isolated Brazilian Town

In the remote Brazilian town of Serrinha dos Pintos, a high rate of cousin marriages has led to an outbreak of Spoan syndrome, a rare genetic disorder that weakens the nervous system and often leaves children unable to walk. The disease manifests only when both parents carry the mutated gene, with over 30% of couples in Serrinha being related—a much higher rate than the global average of about 10% for cousin marriages. Biologist and geneticist Silvana Santos began investigating the mysterious condition more than two decades ago and provided the first diagnosis. Her work brought international attention, funding, and mobility aids such as wheelchairs to the affected community. The isolation and low migration in Serrinha have intensified the syndrome's impact. Santos's discovery led to improved care, awareness, and earned her recognition as one of the BBC's 100 most influential women in 2024.