Fifty Years On, Controversy Surrounds Down Syndrome Discovery
It’s been over 50 years since scientists determined that an extra copy of the 21st chromosome is responsible for Down syndrome. But today a battle continues over who deserves credit for the discovery.
For decades, Jérôme Lejeune was heralded as the one who spotted the chromosomal difference in those with Down syndrome. But in recent years, Science Magazine reports that another scientist — Marthe Gautier, 88 — has come forward to say that she, not Lejeune, was really the one to first notice an extra chromosome.
The claim from Gautier has ignited rebuke from Lejeune’s supporters and the conflict came to a head earlier this year. Gautier was scheduled to give a talk to the French Federation of Human Genetics. The speech was abruptly canceled, the magazine reports, after officials from Lejeune’s foundation sent two bailiffs with a court order to record Gautier citing concerns that she might “tarnish” Lejeune’s memory.
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For her part, Gautier insists that she was the one who first noticed an extra chromosome in those with Down syndrome, but acknowledges that Lejeune determined that the additional chromosome was an extra copy of the 21st that everyone has.
Simone Gilgenkrantz, a scientist and friend of Gautier, told Science Magazine that Gautier’s experience is an example of sexism and that her story needs to be told “in the name of women.”