Marthe Gautier

Marthe Gautier was a French doctor and gene scientist who discovered the cause of Down Syndrome. She was one of two women out of 80 students from all over France to pass the medical training entry exam for Paris’s best hospitals. Gautier trained to become a children’s heart doctor and was offered funding to study at Harvard. She then got a job at a lab learning how to grow cells, a new technology at the time. Once she returned to France, her skill did not work out in a job, so she took a job somewhere else. The head doctor, Raymond Turpin, was very interested in discovering the cause of Down Syndrome. He wanted to look closer at chromosomes, which carry instructions for your cells, to look for anything unique. The only person in the lab who could do it was Gautier. So, after a closer look at the chromosomes, she discovered an extra pair. Gautier needed proof but did not have the correct tools, so she trusted a male colleague, Jérôme Lejeune .Her experiment was not returned. She later discovered an article was about to be published on her discovery, without giving her proper credit. She was eventually awarded a medal in the late 1950s and was planning to expose her work partner, Jérôme Lejeune, but the ceremony was canceled and was held a day later with a smaller ceremony to prevent her from doing that. After her death, Jérôme Lejeune’s foundation credited her for her work.

References

  1. 1 2 3 4 5 6 7 8 9 10 11 Initiative, Lorena Galliot, Sophie McNulty, The Lost Women of Science. "Who Discovered the Cause of Down Syndrome?". Scientific American. Retrieved 2025-04-18.{{cite web}}: CS1 maint: multiple names: authors list (link)
  2. 1 2 3 4 5 6 "After More Than 50 Years, a Dispute Over Down Syndrome Discovery". www.science.org. Retrieved 2025-04-18.
  3. 1 2 "Death of Marthe Gautier: co-signatory of the discovery of trisomy 21 - Fondation Lejeune Research". Jerome Lejeune Foundation. 2022-06-02. Retrieved 2025-04-18.