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Rodolphe Escher

Claiming credit. Marthe Gautier's talk at a recent genetics meeting in Bordeaux was canceled.

After More Than 50 Years, a Dispute Over Down Syndrome Discovery

By: 
Elisabeth Pain
2014-02-11 18:15

It would have been a personal triumph for Marthe Gautier, an 88-year-old pediatric cardiologist and scientist living in Paris. On 31 January, during a meeting in Bordeaux, Gautier was to receive a medal for her role in the discovery of the cause of Down syndrome in the late 1950s. In a speech, she planned to tell an audience of younger French geneticists her story about the discovery—and how she felt the credit she deserved went to a male colleague, Jérôme Lejeune.

But Gautier's talk was canceled just hours in advance, and she received the medal a day later in a small, private ceremony. The French Federation of Human Genetics (FFGH), which organized the meeting, decided to scrap the event after two bailiffs showed up with a court order granting them permission to tape Gautier’s speech. They were sent by the Jérôme Lejeune Foundation, which wanted to have a record of the talk. The foundation, which supports research and care for patients with genetic intellectual disabilities and campaigns against abortion, said it had reason to believe Gautier would "tarnish" the memory of Lejeune, who died in 1994.

A brilliant cytogeneticist with a storied career, Lejeune has become widely known as the scientist who discovered that Down syndrome is caused by an extra copy of chromosome 21. He received many awards, including one from former U.S. President John F. Kennedy. But in recent years, Gautier has claimed that she did most of the experimental work for the discovery. In the French newspaper Le Monde, Alain Bernheim, the president of the French Society of Human Genetics, last week compared her case to that of Rosalind Franklin, whose contribution to the discovery of the double helix structure of DNA in the early 1950s was long overlooked.

In an e-mail to Science, Gautier referred to an interview published on the Web for her version of events more than half a century ago. In it, she explained that she worked on Down syndrome in the pediatric unit led by Raymond Turpin at the Armand-Trousseau Hospital in Paris, which she joined in 1956 after a year at Harvard Medical School in Boston.

Human cytogenetics was just coming of age. In 1956, a Swedish team showed that humans have 46 chromosomes in every cell, not 48, as was widely believed. In the United States, Gautier had learned to grow heart cell cultures, so she proposed to set up an advanced cell culture lab and study Down syndrome. She says she received her first patient sample in May 1958; examining slides, she soon noticed an extra chromosome, but she was unable to identify it or take pictures with her low-power microscope. In June 1958, she "naively" accepted an offer from Lejeune, who Gautier says was studying Down syndrome using other techniques, to take her slides and get them photographed.

Gautier claims she was "shocked" when, after more than 6 months of silence, she learned that the discovery was about to be published in the journal of the French Academy of Sciences, with Lejeune as the first author and Turpin the last; Gautier was in the middle, her last name misspelled as Gauthier. Gautier doesn't dispute that Lejeune identified the 47th chromosome as an extra copy of chromosome 21, but she maintains that she was the first to notice the abnormal count.

While acknowledging that Gautier played a role, the Jérôme Lejeune Foundation claims that Lejeune himself made the discovery. "In July 1958, during a study of chromosomes of a so-called ‘mongoloid’ child, [Lejeune] discovered the existence of an extra chromosome on the 21st pair," according to the foundation's website. The foundation has denied that Lejeune appropriated Gautier’s discovery; in a press statement, it says a letter Turpin sent in October 1958 suggests Gautier still hadn't seen the 47 chromosomes. 

Things came to a head at the meeting in Bordeaux. After calling off Gautier’s talk and the award ceremony, FFGH issued a statement saying it would have been "unacceptable" to hold the ceremony under the threat of a legal suit. But the federation also said it "bitterly regretted" the cancellation and condemned the use of legal power to put pressure on a scientific meeting.

Simone Gilgenkrantz, a professor emeritus of human genetics at the University of Lorraine in France and a friend of Gautier's, says the presentation, which she has seen, was “completely innocuous.” Gautier writes in an e-mail to Science that she accepted the decision and that she felt unprepared to deal with what she calls "an aggression." “To talk under the pressure of justice is not tolerable for me or anyone else," she writes.

Ideology is fueling some of the rancor. Lejeune, a staunch Catholic, was horrified by the advent of prenatal diagnostics, which made it possible to screen fetuses for Down syndrome and other abnormalities, and abort those afflicted. He set out to find a therapy for genetic intellectual disabilities like Down syndrome, but also campaigned tirelessly against abortion—which made him a lightning rod among the left wing in France. (Lejeune was friends with Pope John Paul II and the Vatican is now considering a request to beatify him.) In its statement, the foundation lashed out at Gautier's supporters for trying to discredit an ideological opponent. It said Gautier, at her age, can't be blamed for her "confusion," but called stories backing her version of events in Le Monde and Libération—both left-wing papers—“ideological terrorism.”

Gilgenkrantz, who convinced Gautier to tell her story in 2009, says it should be told regardless of the politics involved. To her, it's one more tale of a female scientist wronged at a time when French science was still very sexist. “This is a story that must be known," she says, "in the name of women.”

But Bernard Dutrillaux, who worked in Lejeune’s lab from the mid-1960s until the early 1980s, believes that some score-settling may be going on. “Lejeune made a lot of enemies" among his peers, he says. Still, he condemns the foundation's legal maneuvers. Both sides, Dutrillaux says, should know better than to fight such "petty rear-guard battles."

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