Marth Gauthier: Co-discoverer of Down syndrome passed away - science

The French doctor who co-discovered the chromosome responsible for Down syndrome, Marthe Gautier, died Saturday at the age of 96.The National Institute for Health and Medical Research (Inserm) told AFP on Monday.

Like many women in the fields of science and medicine, her name was long forgotten, unlike the names of her male colleagues, professors. Jerome Legon and Raymond Turpin With those who discovered the chromosome responsible for Trisomy 21. His role was only recognized in 2010.

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Gauthier was born in 1925 and was destined to be a pediatrician. In the 1950s, he joined Turpin’s team, a researcher who studies Down syndrome, which is characterized by mental retardation and morphological abnormalities.

Supporting the hypothesis of a chromosomal origin for this syndrome, Turpin proposed the idea of using cell cultures to count the chromosomes of affected children.

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Gauthier, who studied pediatric cardiology at Harvard, suggested on his return to Paris that these tests be performed using advanced techniques he had learned in the United States, and in 1958, “without any financial assistance,” according to Inserm, he said in practice until I tried that.

“In this way, Gauthier is very involved in establishing the presence of an extra chromosome in children with Down syndrome. The discovery of trisomy 21 was,” Inserm says. Gauthier publicly regretted being sidelined by her own discovery, the merits of which went to geneticist Jerome Lejeune, who died in 1994.

In specialized interviews, the scientist criticized the Academy of Sciences for leaving it in second place, when it was she who indicated the large number of chromosomes present in people with such symptoms, while Legion identified the chromosome in question.

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The Jérôme Lejeune Foundation paid tribute to Gautier on Monday and recognized his “indisputable role as a contributor” to discovering the origin of trisomy 21, which the geneticist has long lauded. After this discovery, he returned to his initial project, in pediatric cardiology, and joined the pioneering service at the Kremlin-Bicêtre Hospital, in Paris, before establishing the Department of Childhood Hepatology.

In it, he started a laboratory to study congenital metabolic abnormalities of the liver and treat children with fructose and galactose intolerance and other diseases. On the Inserm website, the Inserm website highlights “Marthe Gautier has devoted her entire career to the study of various congenital malformations in infants and children.”

EFE and AFP

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