Down syndrome discovery credit is debated

Down syndrome discovery credit is debated

Marthe Gautier

by Elisabeth Pain -

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.

Read more at After More Than 50 Years, a Dispute Over Down Syndrome Discovery.

[Via Science AAAS]


PrintFriendly and PDF