Paris, May 2, 2022 (AFP) – French doctor Marthe Gautier, co-discoverer of trisomy 21, which causes Down syndrome, passed away on Saturday (30), aged 96, AFP told AFP on Monday. 2) the French National Institute of Health and Medical Research (Inserm).
Like many women in the fields of science and medicine, her name was long forgotten, unlike her male colleagues Professors Lejeune and Turpin in the case of the discovery of the chromosome responsible for trisomy 21. It was from the 2010s that his role was fully recognised.
Born in 1925, Marthe Gautier joined in the 1950s the team of Raymond Turpin, a researcher studying Down syndrome, characterized by mental retardation and morphological abnormalities.
Supporting the hypothesis of a chromosomal origin of this syndrome, he presented the idea of doing cell cultures to count the number of chromosomes in affected children.
Marthe Gautier then offered to take care of it thanks to the techniques she practiced during her previous training in the United States and which she mastered perfectly. She thus participated in a capital way in the detection of a supernumerary chromosome: the discovery of trisomy 21.
The scientist, however, was left out of her own discovery in favor of geneticist Jérôme Lejeune, who died in 1994.
In 2009, Marthe Gautier explained to the scientific journal La Recherche that she had highlighted the presence of a very high number of chromosomes in people with this syndrome. Professor Lejeune, in turn, accurately identified the chromosome involved.
When the team’s results were announced in 1959 in the report of the French Academy of Sciences, his name was only mentioned in the background, “the place of the ‘forgotten discoverer’, while Jérôme Lejeune appeared as the lead author”, he lamented.
However, “in the discovery of the supernumerary chromosome, Jérôme Lejeune’s part (…) was hardly preponderant”, estimated an ethics committee of Inserm in 2014.
The geneticist’s part “is undoubtedly very significant in the development of the discovery at an international level, which is different from the discovery itself”, added the ethics committee. “This assessment cannot exist without the first step and remains inseparably subordinated to it.”
In a press release, the Jérôme Lejeune Foundation praised the “memory” of Marthe Gautier on Monday, assuring that “her undeniable role as a collaborator” in the discovery of the origin of trisomy 21 had “been praised many times” by the geneticist.
At the end of the 1950s, the doctor began to dedicate herself to pediatric cardiology. In 1966, she created the department of anatomopathology of childhood liver diseases at the Kremlin-Bicêtre hospital in the Paris region.
Over the course of her professional life, she has studied various birth defects in babies and children.
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