Like many women in the fields of science and medicine, thehe name of Marthe Gautier has long been forgotten, unlike those of her male colleagues, Professors Lejeune and Turpin in the case of the discovery of chromosome responsible for trisomy 21.
It was not until the 2010s that its role was fully recognized. The scientist died on Saturday April 30 at the age of 96. Born in 1925, Marthe Gautier quickly turned to paediatrics. In the 1950s, she joined the team of Raymond Turpin, a researcher studying Down syndrome, characterized by mental retardation and morphological abnormalities.
Dismissal of one’s own discovery
Supporter of the hypothesis of a chromosomal origin of this syndrome, he put forward the idea of making cell cultures to count the number of chromosomes in affected children.
Marthe Gautier proposes to take care of it thanks to the techniques she practiced during a previous training in the United States and which she masters perfectly. It will thus participate in a capital way in the detection of a supernumerary chromosome: it is the discovery of trisomy 21.
Thereafter, the scientist will regret having been put aside of her own discovery in favor of the geneticist Jérôme Lejeune, who died in 1994.
“The Forgotten Discoverer”
Marthe Gautier declared in 2009 to the magazine The research have demonstrated the presence of too many chromosomes in people with this syndrome. Professor Lejeune had precisely identified the chromosome involved, she indicated.
When the results of the French team were announced in 1959 in the report of the Academy of Sciences, its name was only mentioned in second place, “the place of the forgotten discoverer, while Jérôme Lejeune is the first author”, she lamented.
However, in “the discovery of the supernumerary chromosome, the part of Jérôme Lejeune […] is unlikely to have been preponderant”, estimated in 2014 an ethics committee of Inserm (National Institute of Health and Medical Research).
The Jérôme Lejeune Foundation pays tribute to him
The part of the geneticist “is undoubtedly very significant in the promotion of the discovery at the international level, which is different from the discovery itself”, added the ethics committee. “This enhancement cannot exist without the first stage and remains inseparably subordinate to it”.
In a press release, the Jérôme Lejeune Foundation welcomed this Monday, May 2 ” Memory “ by Marthe Gautier, assuring that “its undeniable role as a contributor” in the discovery of the origin of trisomy 21 had “has been repeatedly praised” by the geneticist.
By the end of the 1950s, the doctor had devoted herself to pediatric cardiology. In 1966, she had created the department of anatomo-pathology of hepatic diseases in children, at the Kremlin-Bicêtre hospital. She has studied throughout her working life different birth defects in infants and children.
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