The Disappearing Spoon: a science history podcast with Sam Kean · Sam Kean, Bleav

The Would-Be Saint's Battle over Down Syndrome

April 8, 2025·19 min·1 clip
Marta Gauthier counted 47 chromosomes in a Down syndrome patient, discovering they have an extra chromosome.
This episode tells the story of French scientist Marta Gauthier's discovery that Down syndrome is caused by an extra chromosome, and how her colleague Jérôme Lejeune took credit for identifying it as chromosome 21. Decades later, a controversy erupted when Lejeune's foundation used legal threats to suppress Gauthier's account at an award ceremony.

As heard by us

A chromosome breakthrough that turns into a very public fight over credit and control.

The episode turns a strange corner of science history into a courtroom-shaped feud over who first pinned down the chromosome cause of Down syndrome, and who got the credit.

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Why you'd press play

A chromosome discovery story that turns into a courtroom libel scare.

Read the full recommendation in PlayNext →
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