The rare illness in a remote city where ‘almost everyone is cousin’

In this way, Silvana Santos arrives in the small town of Serrinha dos pintos more than 20 years ago, residents had no idea because so many children in the area had lost the ability to walk. In the remote city in northeast Brazil there are less than 5,000 inhabitants and is the place where biologist and geneticist Santos has found and named a spoan syndrome until then. It is caused by a genetic mutation and affects the nervous system, gradually weakening the body. Occurs only when the modified gene is inherited by both parents. Santos’s research marked the first time the disease was described anywhere in the world. For this, but also for her later work, one of the 100 women with the most influence for 2024 was declared by the BBC. Before Santos’s arrival, families had no explanation for the disease that affected their children. Today, residents are talking confident about […]
Source: News Beast

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