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Marthe Gautier: the women who discovered the origin of trisomy 21.


Marthe Gautier was born on September 10, 1925 in Montenils, Île-de-France.

Passionate about science, she studied medicine in 1942 with her sister to become a pediatrician. Her sister’s death affected her greatly but did not prevent her to apply for a competitive internship at the Paris Hospitals. In 1995, she defended her thesis in pediatric cardiology. During her studies, she spent a year at Harvard in order to deepen her knowledge in pediatrics: she was part of the first group of students from the Paris Hospitals to obtain a scholarship for the United States.

Back in Paris, she joined the team of Professor Raymond Turpin. With Jérôme Lejeune, Pr Raymond Turpin was studying the disease of “mongolism”. At that time, there was no in vitro cell culture laboratory in France. Following the discovery of the number of chromosomes in the human species in 1956, the research team decided to count the number of chromosomes in patients with Down syndrome. Marthe Gautier proposed herself and opened the first in vitro cell culture laboratory in France!


Photo : NATIONAL HUMAN GENOME RESEARCH INSTITUTE

In 1958, during her work, she discovered that the patients had one more chromosome compared to healthy ones (47 vs 46 chromosomes). She used a microscope to visualize this difference, but the team did not have a device to capture images. She decided to give her slides containing the cells to her colleague, Jérôme Lejeune. Jérôme’s task was to go to another laboratory to obtain the revealing images of trisomy 21.

The same year, Jérôme announced the discovery to the scientific community at a congress in Canada. The laboratory decided to publish the results in the Comptes rendus de l’Académie des sciences with the following authors: Jérôme Lejeune, Marie Gauthier (misspelled!) and Raymond Turpin. All credit were given to Jérôme Lejeune.

Marthe Gautier will express herself:

“I am hurt and suspect manipulation, I have the feeling of being the « forgotten discoverer » “

Marthe felt betrayed and decided to leave the field to focus on children with heart diseases. In 1966, she opened and directed the “Infant Hepatology” research unit at the Kremlin-Bicêtre hospital. She will be successively Researcher, Research Director, and member of the specialized scientific commission of INSERM (French National Institute of Health and Medical Research).

In 2009 Marthe Gautier finally decided to make her voice heard and confided her story to the public. Photo : Rodolphe Escher

But her fight did not end yet. In January 2014, Marthe Gautier was to give a conference on the “Discovery of Trisomy 21” in Bordeaux in order to receive an award for her work in Turpin’s laboratory. Jérôme Lejeune’s family (as well as the organizing foundation) read her conference in advance and canceled her speech. Her award will be given to her in a separate ceremony and without her intervention.


In September 2014, Marthe is made an Officer of the Legion of Honor (highest French order of merit, both military and civil). She refused this prize several times and finally accepted it in her words, “out of indignation at the impudence of the Lejeune Foundation.”

Photo: Marthe Gautier in her lab at Bicêtre in 1970. Coll. Marthe Gautier

She died on Saturday, April 30 at the age of 96.

Marthe Gautier is not the only woman to have experienced this revolting situation. Many women scientists have been victims of the Matilda effect: the minimization of women’s contribution to research, which is attributed to their male colleagues.

Some examples

  1. Ada Lovelace and the first computer program (feel free to discover or rediscover our article on Ada here !)

  2. Hedy Lamarr: Hedy created a secret communication system during the Second World War, giving birth to GPS and Wi-Fi

  3. Alice Ball: Alice was a chemist who isolated the essential molecule for the treatment of leprosy; thanks to her work this molecule was more easily injected into the human body

  4. Grace Hopper: Grace worked on the first compiler (program) that allowed us to go from source code to object code for all the software we use today

  5. Rosalind Franklin: Rosalind had her discovery about the double helix structure of DNA stolen during a conference; her results were photographed and used without her knowledge

And many others…

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