Hello everyone,
I'm Nidhi Gupta, and this is Women Weekly! In this week of discussing the wonderful women in STEM, we are back with yet another incredible story of Marthe Gautier, the unsung champion of Down syndrome research. She discovered an extra chromosome that caused the condition, but it appears her recognition was lost in the genetic shuffle.
Marthe Gautier made the groundbreaking discovery of an extra chromosome linked to Down syndrome, yet her contributions have largely gone unrecognized in the field of genetics. The credit for this discovery was taken by Jerome Lejeune, another pediatrician on her team at the Trousseau Hospital in Paris. He became widely known as the scientist who discovered Down syndrome.
In 1958, Gautier received samples from Down syndrome patients in the U.S. and noticed something intriguing under the microscope—an extra chromosome. She identified the existence of chromosome number 47 but couldn't confirm it due to the limitations of her microscope. She then passed her samples on to Lejeune, who had access to a better-equipped laboratory and could see and photograph the extra chromosome. However, Gautier had an unsettling feeling about the situation: "I didn't see the photos; they were, they told me, with the boss, who was not communicative. I had a strange feeling, an unsettling feeling, that in the end, this situation was going to leave me embarrassed," she recalled. This intuition proved correct. About three months later, Lejeune presented the groundbreaking "French discovery" of the first human chromosome abnormality at a genetics seminar in Montreal, complete with photos.
The situation worsened when the article detailing the discovery was published in January 1959 in the Proceedings of the French Academy of Sciences. Not only was Gautier not informed about the publication, but her first name was mistakenly listed as "Marie" and her last name misspelled as "Gauthier." To add insult to injury, her name appeared second after Lejeune's, contrary to the norm where the primary researcher, the one who designed and conducted the experiments, is listed first. France’s INSERM medical research institute did not suggest until 1994 that Lejeune did not play the leading role in the discovery. However, by that time, he had already been recognized worldwide as the 'Father of Trisomy 21'.
Realizing she had been manipulated, Gautier chose to leave trisomy 21 research and return to caring for children with cardiopathy. On January 31, 2014, Gautier was scheduled to speak about her role in the discovery at the Seventh Biennial Conference on Human and Medical Genetics in Bordeaux and receive the grand prize from the French Federation of Human Genetics. However, the Jerome Lejeune Foundation secured permission from the Bordeaux Tribunal de Grande Instance to have bailiffs film the session. Concerned that the recording might be used in legal proceedings they couldn't afford to contest, the congress organizers canceled her presentation at the last minute, and she received her award privately instead.
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