Marthe Gautier

Marthe Gautier

Born: 10 September 1925, Montenils, France

Died: 30 April 2022, Meaux, France

 

The story of Marthe Gautier is one of the most egregious examples of the Matilda Effect. It seems that her discovery was taken from her by deception and presented to the world as the work of others, who then profited greatly. Read on but try to keep your cool.

In the 1950s, a young doctor named Marthe Gautier began working for a pediatric research team, led by Professor Raymond Turpin. Gautier set up her own lab and designed and conducted experiments that led to the discovery of trisomy 21, the chromosomal anomaly that causes Trisomy, Down Syndrome. Yet, her male colleague, Jerome Lejeune would go on to take credit for the finding, propelling himself into scientific superstardom while Gautier fell into obscurity.

Marthe grew up on a family farm in a family of seven children. Her mother encouraged her daughters to receive an education that would allow them to attain a better life for themselves. After graduating with honors from boarding school in 1942, Marthe moved to Paris to live with her sister who was a practicing doctor.

Marthe pursued her own medical studies in the face of the NAZI occupation, and their pursuit of Jewish professors, and anyone opposed to their regime. In a tragic accident, Marthe’s sister was killed in 1944 by a stray bullet during a skirmish between the Germans and members of the French Resistance.

Although heartbroken by her sister’s death, Marthe went on to finish her medical training and complete a residency in pediatric cardiology. She was recommended to receive a scholarship to study at Harvard for a year by her mentor, Professor Robert Debre.  

Her main area of study at Harvard was the use of cortisone in treating heart disease, and in studying the new surgical treatments used in the USA that could be brought back to France. As a sideline she worked as a part-time laboratory technician in a cell-culture laboratory. Here she learned how to examine cell cultures under a microscope, how to photograph them, and new ways of growing human heart cells in culture for analysis. These methods were not known in France at this time.

Upon her return to France, she found that her job there had been given to a colleague. She found another position at the Trousseau Hospital where she set up a laboratory to study polymalformative syndromes.

In 1956, Swedish biologists announced that they had confirmed that humans have exactly 46 chromosomes instead of 48 which was the belief at the time. Working with Raymond Turpin, the laboratory director, they decided to examine the chromosomes of Down’s Syndrome patients. She first studied the cells of healthy children, confirming that they had 46 chromosomes. When she studied the cells of children with Down Syndrome, she found that they had 47 chromosomes. She then compared the chromosome count between identical twins with Downs and fraternal twins where one of them had Downs. As she suspected, both identical twins had 47 chromosomes, while the fraternal twins had 46 and 47, corresponding to the twin that did not have Downs and the one that did.  She discovered that chromosome 21 had three chromosomes in sufferers of Downs and the normal two chromosomes in non-sufferers.

Trisomy 21 Chromosome Map

Marthe’s microscope did not have the ability to photograph the images of her slides. She entrusted her slides to Jerome Lejeune, a colleague of Raymond Turpin who had access to a photographically capable microscope. Lejeune never returned her slides, instead he reported her findings as his own. The discovery quickly propelled Lejeune to scientific stardom, including having a research institute named after him.

The Jérôme Lejeune Foundation asserts that a letter from Turpin to Lejeune in October 1958 shows that Lejeune, and not Gautier, identified the 47th chromosome. The Foundation maintains that there is no evidence that Gautier made the key discovery.

Disgusted by the total lack of respect she’d been shown, Gautier turned away from the field of genetics and devoted the rest of her distinguished career to the care and treatment of children affected by heart disease. For more than 50 years, Gautier’s contributions to the discovery of trisomy 21 went unrecognized, but in recent times the affair has been revisited and Gautier has received some recognition for her discovery.

During a recent meeting in Bordeaux, Gautier was invited to attend to receive a medal for her role in the discovery of the cause of Down syndrome in the late 1950s. In a speech, she planned to tell an audience of younger French geneticists her story about the discovery—and how she felt the credit she deserved went to a male colleague, Jérôme Lejeune.

But Gautier’s talk was canceled just hours in advance, and she received the medal a day later in a small, private ceremony. The French Federation of Human Genetics (FFGH), which organized the meeting, decided to scrap the event after two bailiffs showed up with a court order granting them permission to tape Gautier’s speech. They were sent by the Jérôme Lejeune Foundation, which wanted to have a record of the talk. The foundation said it had reason to believe Gautier would “tarnish” the memory of Lejeune, who died in 1994.

After her death at 96 in 2022 the Jerome Lejeune Foundation issued the following statement.

The Jerome Lejeune Foundation salutes the memory of Marthe Gautier, collaborator of Jérôme Lejeune and co-signatory of the publication of the discovery of trisomy 21. Born on September 10, 1925, Marthe Gautier passed away on April 30, at the age of 96.
In 1956, as a young cardiologist, Marthe Gautier joined Professor Turpin’s department part-time. She brought an innovative cell culture technique from the United States. For years, Jérôme Lejeune and Marthe Gautier collaborated in good understanding to improve this technique, which was to be decisive in the demonstration of the origin of Down syndrome (called mongolism at the time).
Her undeniable role as a contributor has been praised on many occasions by Professor Jérôme Lejeune.