The scientist wasn’t recognized by her peers until 2014, when the National Institute for Health and Medical Research spoke of her contribution.
Marthe Gautier, the French doctor who co-discovered the chromosome responsible for Down Syndrome, has died at the age of 96, reported the National Institute for Health and Medical Research (INSERM) on Monday.
Like many women in the fields of science and medicine, her name had long been forgotten, unlike those of her male colleagues, professors Jérôme Lejeune and Raymond Turpin, with whom she discovered the chromosome responsible for trisomy 21. Her role was only recognized in the 2010s.
Born on September 10, 1925, Gautier was destined to become a pediatrician. In the 1950s, she joined a team formed by Turpin, a researcher who was studying Down syndrome, which is characterized by mental retardation and morphological abnormalities.
A supporter of the chromosomal origin hypothesis for this syndrome, Turpin proposed the idea of using cell cultures to count the number of chromosomes in affected children.
Marthe Gautier offered to do so using techniques she’d learned during a training course in the United States that she’d mastered to perfection, thereby playing a key role in the discovery.
All the work, the biopsies and cell culturing, was carried out by Gautier, under the direction of Raymond Turpin, who had the idea of counting chromosomes in people affected by Down syndrome.
She also invented purification techniques to make individual chromosomes visible under the microscope.
Since her laboratory didn’t have a microscope capable of doing this, she gave her slides to Jérôme Lejeune, who was also on Turpin’s team. He had to take them to another lab.
In August 1958, the photographs confirmed that Down syndrome was caused by the supernumerary chromosome 21. Lejeune never returned the slides to Gautier and announced the news himself.
In an interview Gautier gave for pcuc.org, she explained that “Lejeune volunteered to take my slides to another laboratory and get them photographed. I agreed. That was in June 1958. Only much later was I told that the slides from my discovery were first photographed in Denmark, Madame Lejeune’s homeland, while the family was on vacation. A local Danish newspaper published the story.”
At the International Congress of Human Genetics held in Montreal, Canada, in August 1958, Lejeune requested that an informal seminar of geneticists be organized at McGill University’s Department of Genetics, at which point he proceeded to announce the discovery of the existence of an extra chromosome in Down syndrome patients.
“Did he mention your name in connection with the discovery?” Gautier was asked.
“No. He presented the findings as if they were his own. Henceforth, the discovery would always be associated with his name,” said the researcher.
In 2009, on the 50th anniversary of the discovery of Trisomy 21, Simone Gilgenkrantz and Peter Harper urged her to break her silence.
“For the first time, I felt willing and able to enlighten them on the circumstances surrounding my discovery. In March 2009, I shared a wonderful anniversary celebration with them and other good friends in my Paris home. I’m grateful to have such wonderful friends with whom I can share my later years,” Gautier said.
In 2014, the National Institute for Health and Medical Research issued a statement saying that “the history of discovery is not identical to the history of science, and the process of validating knowledge remains very different.”
It added that “the technical approach is a necessary condition for discovery, a key role of Marthe Gautier, but quite often it must be extended to make recognition emerge. As the discovery of trisomy would have been impossible without the mandatory contributions of Raymond Turpin and Marthe Gautier, it is regrettable that their names were not systematically associated with this discovery, as much in terms of communication but also in the assignment of various awards and distinctions.”
Lejeune was also known for being a friend of Pope John Paul II and for being against abortion. He was canonized 13 years after his death. (With information from AFP)