SCIENCE
In a hilltop town of Brazil, children mysteriously lost their ability to walk. No one knew why.
By Aniket Chakraborty
May 12, 2025
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Biologist Silvana Santos, moved by local stories, travelled to
Serrinha dos Pintos
to investigate.
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The common thread? Many affected families had histories of cousin marriages.
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Santos collected DNA samples and conducted years of genetic fieldwork.
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In 2005, she identified a new neurological disorder: Spoan syndrome.
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Spoan syndrome arises when a genetic mutation is inherited from both parents.
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The mutation causes progressive nervous system damage, eventually paralyzing patients.
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Her work brought awareness, medical support, and hope to the once-neglected community.
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Genetic screening now helps families assess risk, not discourage love.
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Santos changed lives with science and empathy—and became a symbol of hope for rare disease communities worldwide.
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