For his epitaph he was awarded these four letters, engraved in gold on the modest granite tombstone:
“NIKE”
– not the sports brand of course, but the Greek goddess of victory. Professor Jérôme Lejeune died in the early morning of Easter, just 30 years ago, on April 3, 1994. He was preparing to receive communion, on this feast which represents, for the Christian that he was, the victory of life over death. But a more personal “victory” made him famous throughout the world: the discovery in 1958 of the supernumerary chromosome responsible for Down syndrome. People still spoke of “Mongolism”; it was Jérôme Lejeune who would later impose the current name of this congenital disease. With science, it is also the dignity of people carrying the disease that has taken a leap forward thanks to its discovery.
The grave of Jérôme Lejeune at the Chalô-Saint-Mars cemetery, in August 1997, during the visit of Pope John Paul II. MICHEL GANGNE / AFP
This is part of a series of scientific advances which have marked the history of genetics, and thanks to which the work of Professor Lejeune was able to succeed. The first chromosomes were observed under a microscope at the end of the 19th century; genes were still just an abstract concept. For a long time, 48 chromosomes were counted on the human karyotype - which means observing them remained an arduous task. It was not until 1956 that it was established that there are only 46 chromosomes in human DNA.
In Paris, since 1937, Professor Turpin postulated that Mongolism is the result of a chromosomal anomaly. In the clinical laboratory of the Trousseau hospital where he directed his research, he hoped to finally get to the bottom of it. At his side since 1952, Jérôme Lejeune assisted him by studying the fingerprints of Mongolian patients. In 1956, the arrival in the laboratory of the young cardiologist Marthe Gautier, who had learned cell culture techniques in Boston, made it possible to push genetic investigations further. On May 22, 1958, Jérôme Lejeune wrote in his analysis notebook that he had counted
“a supernumerary chromosome”
on the cellular tissues of “Mongolian” children. On January 26, 1959, this discovery was communicated for the first time to the scientific world in an article published by the Academy of Sciences, and signed, in order, by Jérôme Lejeune, Marie Gauthier (with two spelling errors which will disappear in subsequent publications) and Raymond Turpin.
Analysis notebook by Jérôme Lejeune. We read, on the date of May 22, 1958: “1 chr. supernumerary » Archives of Professor Jérôme Lejeune - Jérôme Lejeune Foundation
Jérôme Lejeune therefore acquired a growing reputation. He has since devoted his life to continuing his research into Down syndrome; today the Foundation that bears his name is raising funds in the hope of one day discovering a treatment for this disease. In addition to his scientific career, Professor Lejeune is also committed against prenatal diagnosis (making it possible to detect a genetic anomaly in the embryo during pregnancy), in the name of respect for the dignity of life from its conception.
Posthumous controversy
Having therefore become controversial as the practice of abortion became commonplace, the memory of Professor Lejeune also suffered from a posthumous controversy, triggered in 2009 by the publication of a letter from Marthe Gautier in the journal
Medicine / Sciences
of Inserm, half a century after the discovery of trisomy 21. In this text, the co-signatory of the article having established for the first time the existence of a 47th chromosome on the karyotype of carriers of Down syndrome exposes her feeling of having been the
“forgotten discoverer”
.
The scientist recounts her journey, reflecting at length on the stay in the United States during which she acquired the cell culture technique without which any chromosome observation would have been in vain. She describes how she installed, with the means at hand, a similar device in the laboratory of Professor Turpin (whom she calls
“the boss”
), little by little arousing the attention of a
“newcomer to the laboratory »
, Professor Lejeune, a
“CNRS intern”
whom she says she had not known before. According to her account, once cells from “Mongolian” children were obtained, it was thanks to her that the observation of the 47th chromosome was made possible:
“I won my bet, that of succeeding alone with my laboratory assistants in a technique and above all to highlight an anomaly
.
To
“certify the presence”
of the supernumerary chromosome, which is smaller than the others, and
“establish the karyotype”
, Marthe Gautier
“entrusts the slides to Jérôme Lejeune who has the photos taken”
. According to her, the researcher kept the photos without showing them to her, then left for six months in North America for a series of conferences on his other research subject, ionizing radiation. Professor Lejeune then mentioned the discovery of Down syndrome during a seminar in October 1958,
"as if he were the author"
, then urgently published a first article on his return to France, to
"inelegantly get ahead of it"
an Anglo-Saxon team about to make the same discovery.
“I am aware of what is sneakily taking shape, but I do not have enough experience or authority”
, interprets Marthe Gautier retrospectively, adding:
“too young, I do not know the rules of the game”
. She recognizes, however, that she would have little intention of exploiting the discovery in any case:
“my professional life was built elsewhere, towards the clinic”
where she then began, in parallel, her consultations in cardiology.
Also read: Jérôme Lejeune: discovery, glory, tragedy
What Marthe Gautier does not yet dare to write in black and white, out of modesty, others quickly wrote in full, taking up the story of this dispossession: in a scientific world that is still too masculine, the place of women in research had once again been stifled. Her story was picked up throughout the press, and many journalists saw it as further proof of
the “Matilda effect”
, named after a feminist activist who in her time denounced the monopolization of intellectual property by men. women.
Marthe Gautier's story inspired the novelist Corinne Royer to write a work combining fiction and biography,
Ce qui nous returns
(Actes Sud, 2019), written at the end of two years spent in the company of the scientist, who died three years later in 2022 We are surprised by the writer at the delay between the discovery of Down syndrome, and the claim of her... motherhood, by Marthe Gautier.
“We have to put ourselves back in the context of the time: she had no support, no support, and she would have been ostracized from the scientific world”
assures Corinne Royer to Le
Figaro
.
“Marthe Gautier had the choice between remaining silent and continuing her career on her own, or sacrificing everything in her fight to be recognized as the true discoverer of Down syndrome
. ”
The novelist adds that the Jérôme Lejeune Foundation,
“extremely powerful”
, would also exert pressure on the research community so as not to call into question the decisive role played by Professor Lejeune. And to present to
Figaro
, as proof, the letter sent by a cardiologist after publication of the novel:
“my colleagues and I being aware of her discovery of Down syndrome were full of admiration for her”
. A silent admiration, therefore, due to a form of omerta.
A thesis denied by the archives
It is not an exaggeration to suppose that the controversy over the discovery of Down syndrome also owes a lot to the ethical or ideological antagonisms between Marthe Gautier and Jérôme Lejeune. The latter narrowly failed to win the Nobel Prize - several members of the committee subsequently recognized that his positions on abortion had worked against him. However, as is always the case when a major discovery is awarded the Nobel Prize, Professor Lejeune would probably not have received the Nobel alone: Raymond Turpin and Marthe Gautier would have been awarded with him. The latter thus retains a significant grievance against her former colleague.
Also readAlexandre Varaut: “What my son with Down syndrome owes to the Jérôme Lejeune foundation”
But for the biographer* of Professor Lejeune, Aude Dugast, member of the Lejeune Foundation and postulator to the Vatican of the cause of canonization of the late professor, this animosity appeared many years later.
“Marthe Gautier waited for the death of Professor Lejeune and Professor Turpin to express herself, while she maintained a friendly relationship with Jérôme Lejeune until at least 1962, three years after the discovery,”
she says. -She. Indeed, while Marthe Gautier assured that she did not know Professor Lejeune before 1958, the letters she sent to him a year earlier already began in these terms:
“dear friend”
; later, writing to his wife, Professor Lejeune still describes her as
“absolutely charming”
with him.
Above all, concerning the discovery itself, it appears clearly in Professor Lejeune's analysis notebook from May 1958, refuting the idea according to which the discovery was first made by Marthe Gautier before Jérôme Lejeune was associated with it. He himself had learned to color chromosomes to highlight them in photographs taken under a microscope. Professor Turpin's correspondence with Professor Lejeune in October 1958 also shows that it is to him that Professor Turpin attributes the discovery.
Letter from Raymond Turpin to Jérôme Lejeune, October 27, 1958: “Mlle Gautier and Mme Massé are still at 46”. Archives of Professor Jérôme Lejeune - Jérôme Lejeune Foundation
Throughout Professor Lejeune's trip to America, Marthe Gautier alone did not manage to find a 47th chromosome, which Professor Lejeune did several times on his return, thus making it possible to publish a first article despite his scruples. inspired at the time his fear of making a mistake by rushing to communicate his results. Finally, six years later, during an inaugural lesson in 1965 for his appointment as professor of fundamental genetics, Jérôme Lejeune bluntly praised
the “skill”
and
“tenacity”
of Marthe Gautier, without which the discovery would not have been possible. not been possible. It is therefore difficult to maintain that Jérôme Lejeune would have
“invisibilized”
his colleague.
The hypothesis according to which Professor Lejeune played a major role in this discovery remains by far the most plausible in the eyes of the historian and archivist Bruno Galland, director of the Rhône archives and professor at the Sorbonne, who sorted the archives of Jérôme Lejeune after his death.
“Professor Lejeune's notebooks, and the private correspondence he maintained with his wife Birthe Lejeune, clearly show the essential role he played. These documents are all the less likely to have been intentionally falsified as they were not intended to be made public: they reveal the internal force of Jérôme Lejeune at that time
,” he notes.
More than a malice on the part of Jérôme Lejeune, the controversy with Marthe Gautier firstly provides information on the part that great scientific discoveries owe to teamwork, while media or historical ease often pushes them to only be associated 'to a single name. This is what the opinion of the Inserm ethics committee, seized of this question in 2014, concludes:
“Nowadays, discoveries are collective and no longer individual”
.
*Jerome Lejeune. The freedom of the scholar
, Aude Dugast, Artège, 477 p., €22.