BBC article: Spoan syndrome: The rare disease in a remote town where 'almost everyone is a cousin'

Before Silvana Santos arrived in the little town of Serrinha dos Pintos more than 20 years ago, residents had no idea why so many local children had lost the ability to walk.

The remote town in north-eastern Brazil is home to fewer than 5,000 people, and is where biologist and geneticist Santos identified and named a previously unknown condition: Spoan syndrome.

Caused by a genetic mutation, the syndrome affects the nervous system, gradually weakening the body. It only appears when the altered gene is inherited from both parents.

Santos's research marked the first time the disease had been described anywhere in the world. For this and later work, she was named one of the BBC's 100 most influential women in 2024.

Before Santos arrived, families had no explanation for the illness affecting their children. Today, residents talk confidently about Spoan and genetics.

"She gave us a diagnosis we never had. After the research, help came: people, funding, wheelchairs," says Marquinhos, one of the patients.

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The BPS people would have had a field day with these people.