Marthe Gautier

This week for WiSE Wednesday we’re featuring Dr. Marthe Gautier who passed away last month at the age of 96. She was a pediatric cardiologist and a long-forgotten key contributor to the discovery of trisomy 21 and its role in Down Syndrome. It is not uncommon to hear of women scientists of the 1950’s being brushed aside when credit is given for important discoveries, but what makes her story even more egregious is that the person who got the credit for her work is being canonized as a saint! In this week’s post we remember Marthe Gautier and her contribution to science and medicine.

Dr. Gautier began her medical studies in 1942 alongside her sister Paulette and in 1955 she defended her thesis on the pathology of fatal rheumatic fever from infection of streptococcus. She then received a scholarship to study rheumatic fever and to create a department for the diagnosis and surgery of congenital heart diseases in young children at Harvard.

While at Harvard, Marthe also studied cell culture (a new field at the time) and spent time working as a cell culture technician culturing fibroblasts from aorta. After she returned from Harvard she joined Raymond Turpin’s group in the pediatric unit of Trousseau Hospital. His group studied polymalformative syndromes but at the time there were no cell culture labs in France. Marthe joined the Turpin lab when Swedish biologists published evidence that human cells had 46 chromosomes in 1956. After this discovery, Raymond Turpin decided to use cultured cells to count the number of chromosomes found in the cells of children with Down Syndrome and prove that the syndrome was chromosome related. Since Gautier had trained in cell culture in the United States, she was the perfect person to do the research. She had to begin the cell culture lab from scratch- taking out a personal loan to buy the proper glassware, getting plasma from roosters, and using her own serum to supplement materials that she did not have access to. After getting her cell culture up and running she was able to confirm that cells of children without Down Syndrome had 46 chromosomes but that a child with Down Syndrome appeared to have 47. However, she could not identify the extra chromosome without a better microscope.

She prepared slides and gave them to colleague Jérôme Lejeune, who also worked in the Turpin lab, to image on a better microscope. However, she did not see the images that resulted. Instead, Jérôme Lejeune announced the discovery at a conference. Jérôme Lejeune was listed as first author with Marthe Gautier listed second – name misspelled – in the paper about the discovery. Over time the discovery, named trisomy 21, was touted as the discovery of only Lejeune. He would go on to receive many awards and be known as an expert in the condition and he started a foundation to research genetic disorders like trisomy 21 and advocate against abortion.

Gautier left the field of trisomy 21 after this and returned to her work in pediatric cardiology. After many years of trying to tell her story, in 2014 Gautier began to receive recognition for her discovery. After an ethics committee concluded based on letters between Turpin and Lejeune that Lejeune could not have been the primary researcher behind the discovery, the French Federation of Human Genetics decided to recognize her at one of their meetings. However, despite this when Gautier was invited to give a speech about the subject, interference from the Lejeune Foundation caused the speech to be canceled and the award to be given in private. Jérôme Lejeune died in 1994 and has passed the first two steps needed to become canonized as a saint for his anti-abortion advocacy. He is considered by the Catholic Church to be a person of “heroic virtue”. However, the INSERM Ethics committee concluded his claimed contribution to the discovery of trisomy 21 did not give proper credit to Marthe Gautier and Raymond Turpin and supported Marthe Gautier’s belief that he had taken credit for much of her work in this discovery.

Dr. Marthe Gautier died on April 30th, 2022 at the age of 96. Her story was told in Science in 2014 about her contribution to science and how she has been wrongfully left unrecognized for many years. In 2018 she was promoted to Commander of the National Order of Merit.

Entry Courtesy of Claire Regan


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