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Women in Science
Moderated by  Laura Hoopes
Posted on: March 22, 2014
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Posted By: Laura Hoopes

The Contested Credit for Down Syndrome Mechanism Discovery

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Hi friends of women in science,

I missed this story but someone called it to my attention and it's fascinating. Read more in the Feb 14, 2014 issue of Science in "After More than 50 years, a dispute over Down Syndrome Discovery."

In France, on January 31, Marie Gautier was scheduled to receive an award from the French Federation for Human Generics for her role in the discovery that Down Syndrome was based on an extra copy of a human chromosome. However, the male French scientist who received credit, Jerome Lejeune, although he has passed away, left behind a foundation that threatened the award ceremony and thus Gautier received the award privately at a later date, rather than having the big public lecture and vindication she had hoped for.

The article I mentioned above explains that she had worked with Raymond Turpin's lab in Paris. There she worked on Down Syndrome samples in the pediatrics unit of the Armand-Trousseau Hospital, which she joined in 1956, the year after she completed Harvard Medical School. For context, this was the year when the human chromosome number was first corrected to 46 rather than 48, due to improvements in microscopy. In Turpin's lab, she set up cell culture methods for examining chromosomes and in 1958, received her first Down syndrome sample. She detected the presence of an extra small chromosome, but could neither identify it nor take good pictures of the chromosome spreads with the microscopes she had available. According to her account posted on the web, she accepted an offer from Lejeune in June, 1958 to take her slides and get them photographed. The next thing she knew, six months later she heard that the French Academy of Sciences was publishing the work with Lejeune as first author, Turpin as last author, and her, with her name misspelled, as middle author. She agrees that LeJeune identified the extra chromosome as chromosome 21, but feels that she discovered that an extra chromosome was at the root of the syndrome. Lejeune disputes that, citing a letter from Turpin that the foundation has on file.

According to Science, Lejeune had a host of political enemies because of his strong anti-abortion stance, lauded by popes but not appreciated by liberal media. But the foundation representing what they believe are his interests has suppressed any public recognition of Marie Gautier, now 88. She did not want to take a confrontational approach, i.e. to give the speech, knowing the foundation would tape it and intended litigation. But her friend, Simone Gugenkranz, emerita in human genetics at University of Loraine, felt it was a tragedy that even after fifty years, she could not receive proper recognition for her discovery.

What do you think about this case? Would you have gone ahead with the award as scheduled?

cheers,
Laura

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From:  Genuine Dock |  May 31, 2018
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Hi Livi and Small Science Woman,

I agree it's a disturbing story, but we all need to know this kind of male chauvinist suppression of all acknowledgement of women's science contributions is not dead and buried yet.

cheers,
Laura

From:  Laura Hoopes |  March 24, 2014
Community

Laura---
What an interesting case! I would not want a lawsuit at 88 but how sad it took so long for her contribution to be recognized. I'll bet her friend Simone had a hand in getting her the award, and I love that! Women need to stick together in the face of such determination to make their contributions invisible.
I think looking into this would make a great student project...thanks for the idea!
SSW

From:  Small Science Woman |  March 22, 2014
Community

Good lord, it's just like Rosalind Franklin all over again! Her boss overlooked her contributions no doubt and that's why the foundation has that letter. I am so glad things are not this terrible for women in science today, although of course there's plenty of room for improvement! I do wish she had been able to get the recognition she deserves.

Livi

From:  Livi M |  March 22, 2014
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