The French doctor, co-discoverer of the supernumerary chromosome responsible for trisomy 21, Marthe Gautier, died on Saturday. She was 96 years old.
The French doctor co-discoverer of the supernumerary chromosome responsible for trisomy 21, Marthe Gautier, died on Saturday at the age of 96, AFP learned on Monday from the National Institute of Health and Medical Research ( Inserm). Like many women in the fields of science and medicine, her name has long been forgotten, unlike those of her male colleagues, Professors Lejeune and Turpin in the case of the discovery of the chromosome responsible for trisomy 21. C It was from the 2010s that its role was fully recognized.
Born in 1925, Marthe Gautier was destined for pediatrics. In the 1950s, she joined the team of Raymond Turpin, a researcher studying Down syndrome, characterized by mental retardation and morphological abnormalities. 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 offers to take care of it thanks to the techniques she practiced during a previous training in the United States and which she masters perfectly. She will thus participate in a capital way in the identification 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 scientific magazine La Recherche that she had highlighted the presence of too many chromosomes in people with this syndrome. Professor Lejeune had precisely identified the chromosome involved, she indicated. When the team’s results were announced in 1959 in the report of the French Academy of Sciences, its name was only mentioned in second place, “the place of the ‘forgotten discoverer’, whereas 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. The part of the geneticist “is undoubtedly very significant in the development of the discovery at the international level, which is different from the discovery itself”, added the ethics committee. “This valuation cannot exist without the first stage and remains inseparably subordinate to it”.
In a press release, the Jérôme Lejeune Foundation praised Marthe Gautier’s “memory” on Monday, assuring that “her undeniable role as a contributor” in the discovery of the origin of trisomy 21 had “been praised on many occasions” by the geneticist .
At the end of the 1950s, the doctor 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 in the Paris region. Throughout her professional life, she has studied various birth defects in infants and children.