Death of Marthe Gautier, central figure in the discovery of trisomy 21

by time news

All controversy aside, it is an eminent figure in French genetic research who has just disappeared. According to the website The research, the French doctor Marthe Gautier died on Saturday April 30. She was 96 years old.

A resident of Paris hospitals, she defended her thesis in 1955 under the direction of Professor Robert Debré, father of the drafter of the constitution currently in force in France. She left the same year to study for a year at Harvard, in the United States, before returning to France, to continue her research at the Trousseau hospital where, thanks to the techniques she learned in the United States, she brings his mastery of cell cultures.

While it has been established for a few years that humans carry 46 chromosomes (23 pairs), the teams at Trousseau Hospital lean towards a chromosomal origin to what is then called “mongolism”. “Marthe Gautier, without any financial assistance, cultured cells from patients with mongolism, explains the page dedicated to the researcher on the site of the National Institute of Health and Medical Research (Inserm). It will thus participate in a capital way in the demonstration of a supernumerary chromosome in Mongolian children; it is the discovery of trisomy 21.” Clearly, chromosome 21 is in triplicate instead of two.

The “forgotten discoverer”

Dating from 1958, this discovery was made, at least in connection with Professor Jérôme Lejeune, who was then also working on the causes of “Mongolism” and to whom Marthe Gautier entrusted her work because he had better equipment. The French discovery was identified in early 1959 in a scientific publication. “Contrary to the custom which wants the researcher who imagined and carried out the manipulations to be the first signatory, my name is second, the place of the “forgotten discoverer”, while Jérôme Lejeune is the first author”lamented Marthe Gautier in an article published by the journal The research in 2009.

This version is strongly contested by the Jérôme Lejeune Foundation. “For two years, Jérôme Lejeune and her (Marthe Gautier) are working to improve this technique (of cell culture), reports for its part the site of the foundation. Thanks to this technique, Jérôme Lejeune will finally be able to demonstrate the chromosomal origin of mongolism which he presented in his previous publications. (…) It was on May 22, 1958 that he managed to identify for the first time in a Mongolian child the presence of 47 chromosomes instead of the 46 normally found. »

Anyway, the Jérôme Lejeune foundation wanted to put the controversy aside at the announcement of the death of Marthe Gautier. “For years, Jérôme Lejeune and Marthe Gautier collaborated on good terms”, assures the foundation in a press release which “Hail the memory” of the deceased. “Her undeniable role as a contributor has been repeatedly praised by Professor Jérôme Lejeune”, is it still insured.

Professor Lejeune on the way to beatification

After this discovery, Marthe Gautier turned to pediatric cardiology. “Marthe Gautier has devoted her entire professional life to the study of various congenital anomalies in infants and children”, again emphasizes Inserm. In 2014, she was named Officer of the Legion of Honor and, four years later, Commander of the National Order of Merit.

Professor Jérôme Lejeune, for his part, died in 1994. His process for beatification is underway and he was recognized as venerable in January 2021 by Pope Francis. This means that he could be beatified if a miracle obtained through his intercession were to be recognized.

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