Marthe Gautier, the “forgotten” discoverer of trisomy 21, is dead

The researcher died on Monday after repeating in 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 to be the “forgotten” discoverer of the chromosomal abnormality underlying Down’s disease, also called trisomy 21, after identifying a 47th chromosome in people with this syndrome in 1959.

She has long been considered a secondary co-author of this discovery, for the benefit of her colleague Jérôme Lejeune, who is presented as the lead author of the research. But in the last decade of her life, Mathe Gautier has stated on several occasions that the latter had in fact monopolized her discovery, before relegating her to the backdrop of this great 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 joined the team of Professor Raymond Turpin, head of the pediatric unit at Trousseau Hospital (Paris). The latter works on Down’s syndrome and hypothesized several years ago that she must be linked to a chromosome problem. Following the discovery of two biologists in 1956, which prove that humans have 46 chromosomes, Raymond Turpin wants to use this research to prove his theory.

“He regrets that there is no laboratory in Paris capable of making cell cultures to know the chromosomes of the Mongols”, Marthe Gautier said in 2009 to Research. “‘If you give me a seat I’ll take care of it’, I tell him. Turpin accepts.”

The young woman learned the cell culture technique thanks to her scholarship that had taken her to Harvard the previous year. The premises are entrusted to her, but the researcher must complete the premises with suitable equipment. “I do this work on a voluntary basis and take a loan to buy the glassware: 100,000 old francs”, a figure for which “no one in the hospital ward has ever offered to pay the bill,” she points out.

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

It is precisely this chromosomal anomaly, 47 chromosomes instead of 46, which therefore appears 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 enlarge it.”

“My name is the second”

Then, according to his account, Jérôme Lejeune, one of Raymond Turpin’s pupils, intervenes. 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, writing a publication. But nothing happens”, she for several months. He asks for an explanation and Dr. Lejeune explains that the photos of him are with the head of the department, whom he describes as “non-communicative”.

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 quickly prepared, of which Marthe Gautier claims 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 that the researcher who imagined and carried out the manipulations is the first signatory, my name is the second”, declares Marthe Gautier. Also, it is misspelled: “Gauthier” instead of “Gautier”.

The researcher explains that she then co-signed several documents with him on the same topic, but quickly withdrew from this field, to return to her initial training: caring for children with heart disease. Asked later about her silence for years, she explained to the Complément d’Enquête program in July 2021: “I risked not being heard, and at that moment it is tiring. It is always tiring trying to prove something and not succeeding. Even Turpin does not he never thanked me very much for anything I did. I was pretty disgusted. Disgusted. “

Jérôme Lejeune would continue his career in the field of genetics, becoming a 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 , heal, defend “.

An attribution still controversial

Simone Gilgenkrantz, professor emeritus of human genetics and close to Marthe Gautier, explained in 2014 to Science that this story was “the story of more than one scientist who was wronged in an age when French science was still very sexist. “. story that must be known “, she said,” on behalf of women. “

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

On its website, in 2014, the Foundation explained that it wanted to record the conference after being warned “of an approach by Ms Marthe Gautier that could 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 discredited, underlining the foundation 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 of him “is without foundation but no contradiction”, he assures him. The foundation thus proposes 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 not discovered the 47th, unlike firstto Girolamo Lejeune.

The “key role of Marthe Gautier”

Seized by a group of researchers in 2014, Inserm’s ethics committee issued an opinion on the subject, in which it recognized Marthe Gautier’s leading role in this research. It can be read that “given the context at the time of the discovery of the supernumerary chromosome, it is unlikely that Jérôme Lejeune’s role in it was preponderant”, particularly as only Marthe Gautier was trained in cell culture. He does not deny the participation of Jérôme Lejeune but points out that it was Marthe Gautier at the center of the discovery.

“The technical approach is a necessary condition for discovery – a key role of Marthe Gautier” underlines the document, adding that “very often it is necessary to extend it to bring out the recognition – contribution first of Raymond Turpin and then of Jérôme The Younger”. 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 have not been systematically associated with this discovery both in communication and in the bestowal of various honors”.

Marthe Gautier was appointed Officer of the Legion of Honor in 2014, elevated to the rank of Commander in 2018. Her story “illustrates the challenge of recognizing the role and place of each of the authors when publishing the research work”, Inserm writes, but also of the invisibility of women for the benefit of men in history.

Salome Vincente Journalist of BFMTV

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