Marthe Gautier, discoverer "forgotten" of trisomy 21, died

The researcher died on Monday after repeating during the last years of her life that she was the main discoverer of the chromosome responsible for trisomy 21.

Marthe Gautier died on Monday at the age of 96. This French pediatrician and researcher is now known for being the “forgotten” discoverer of the chromosomal anomaly at the origin of Down’s disease, also called trisomy 21, after having identified a 47th chromosome in people with this syndrome. in 1959.

She has long been considered a secondary co-author of this discovery, to the benefit of her colleague Jérôme Lejeune, presented as the main author of the research. But in the last decade of his life, Mathe Gautier said on several occasions that the latter had in fact monopolized his discovery, before relegating it to the background of this major scientific advance.

The Foundation and the descendants of Jérôme Lejeune still refute this story today.

The discovery of the 47 chromosomes

In 1956, after a thesis in pediatric cardiology, Marthe Gautier joins the team of Professor Raymond Turpin, head of the pediatric unit at Trousseau Hospital (Paris). The latter works on Down syndrome and has hypothesized, several years ago, that it must be linked to a problem of chromosomes. Following the discovery of two biologists in 1956, which prove that the human being has 46 chromosomes, Raymond Turpin wants to use this research to prove his theory.

“He regrets that there is not a laboratory in Paris capable of doing cell cultures to know the chromosomes of Mongolians”, says in 2009 Marthe Gautier to The research. “‘If you get me a place, I’ll take care of it’, I tell him. Turpin accepts”.

The young woman learned the technique of cell cultures thanks to her scholarship which had taken her to Harvard the previous year. Premises are entrusted to her, but the researcher must complete the premises with adequate equipment. “I do this work on a voluntary basis and take out a loan to buy the glassware: 100,000 old francs”, a sum for which “nobody from the hospital department has ever offered to pay the bill”, she underlines.

But several of the products to carry out his research are not available in France. She then tinkers, going herself to take plasma from a rooster that she brought back to the Trousseau hospital and serum from her own body. Her technique works, and after months of research, she “verifies that the cells of ‘normal’ children have 46 chromosomes”. Only then, in children with Down syndrome, she sees “an extra chromosome”.

It is this chromosomal anomaly, 47 chromosomes instead of 46, which therefore seems to be the cause of Down syndrome. But to correctly identify this extra chromosome, “I would need an optical microscope with a camera to take a picture of the chromosomes and magnify it.”

“My name is second”

Then intervenes, according to his story, Jérôme Lejeune, one of the students of Raymond Turpin. In May 1958, he offered to have his cell preparations photographed in a better equipped laboratory, which Marthe Gautier accepted. “I expect a quick return, the writing of a publication. But nothing happens”, for several months. She asks for explanations and Dr. Lejeune explains that her photos are with the head of the department, whom she describes as “uncommunicative”.

However, at the same time, Jérôme Lejeune spoke at the Montreal Genetics Congress, and announced the French discovery of this 47th chromosome.

A scientific paper is then prepared quickly, of which Marthe Gautier says she was only informed the day before its publication. In January 1959, the discovery appeared in the Proceedings of the Academy of Sciences under the title “human chromosomes in tissue culture”. But, “contrary to the custom which wants the researcher who imagined and carried out the manipulations to be the first signatory, my name is second”, declares Marthe Gautier. Moreover, it is misspelled: “Gauthier” instead of “Gautier”.

The researcher explains that she then co-signed several papers with him on the same subject, but she quickly withdrew from this field, to return to her initial training: care for children with heart disease. Asked later about her silence for years, she explains in July 2021 on the program Complément d’Enquête“I ran the risk of not being listened to, and at that time it’s tiring. It’s always tiring to try to demonstrate something and not succeed. Even Turpin never thanked me very much for everything I did. I was pretty disgusted. Disgusted.”

Jérôme Lejeune will continue a career in geneticsbecoming the specialist in trisomy 21. During his career he received several prestigious awards for his discovery, including the Kennedy Prize, and in 1966 he founded the Jérôme Lejeune foundation to “research, treat, defend”.

A still disputed attribution

Simone Gilgenkrantz, professor emeritus of human genetics and close friend of Marthe Gautier, explained in 2014 to Science that this story was, “one more story of one wronged woman scientist at a time when French science was still very sexist. ‘It’s a story that needs to be known,’ she says, ‘on behalf of women. ‘”

However, this story has been denied several times by the Jérôme Lejeune Foundation and his family – the doctor died in 1994. In 2014 in particular, Marthe Gautier was to receive the grand prize from the French Society of Human Genetics and give a lecture entitled “Discovery of trisomy 21”. But the organizers of the congress receive two bailiffs presenting a court order authorizing them to register the congress, at the request of the Jérôme Lejeune Foundation, reports then The world. The speech is cancelled, and the prize awarded to a small committee.

On its website, in 2014, the Foundation explains having wanted to record the conference after having been warned “of an approach by Mrs. Marthe Gautier likely to undermine the memory of Professor Jérôme Lejeune, the first signatory of the discovery of the cause of trisomy 21”.

The story of the researcher is then decried, the foundation stressing that “for 50 years, the scientific community, both national and international, has not expressed the slightest doubt about the story of the discovery”. His statement “is devoid of foundation but no contradiction”, he is assured. The foundation thus puts forward a sentence taken from a letter from Raymond Turpin to Jérôme Lejeune, dated according to it from October 27, 1958, in which it is written: “Mlle Gautier and Mme Massé (the technician) are still at 46” chromosomes, and therefore did not discover the 47th, unlike, a priorito Jerome Lejeune.

The “key role of Marthe Gautier”

Captured by a group of researchers in 2014, the Inserm ethics committee issued an opinion on the subject, in which he recognizes the major role of Marthe Gautier in this research. We can read there that “given the context at the time of the discovery of the supernumerary chromosome, Jérôme Lejeune’s part in it is unlikely to have been preponderant”, in particular because only Marthe Gautier was trained in cell culture. He does not deny the participation of Jérôme Lejeune but emphasizes that it was Marthe Gautier who was at the heart of the discovery.

“The technical approach is a necessary condition for discovery – key role of Marthe Gautier” underlines the document, adding that “very often it is necessary to extend it to bring out the recognition – first contribution of Raymond Turpin and later of Jérôme The young”. In this sense, “the discovery of trisomy could not have been made without the essential contributions of Raymond Turpin and Marthe Gautier, it is regrettable that their names were not systematically associated with this discovery both in communication and in the conferment of various honours.”

Marthe Gautier was named Officer of the Legion of Honor in 2014, raised to the rank of Commander in 2018. Its history “is illustrative of the challenge of recognizing the role and place of each of the authors when publishing research work”, writes Inserm, but also of the invisibilization of women for the benefit of men. in history.

Salome Vincendon

Salome Vincendon BFMTV journalist

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