There are approximately six million people who are currently diagnosed with Down Syndrome, also known as Trisomy 21, caused by an extra copy of chromosome 21. This genetic disorder was discovered by a British physician, John Langdon Down, in 1866. But the cause remained a mystery until May of 1958, when Dr. Marthe Gautier, a French physician and an expert in cell culture, spotted an extra chromosome in the cells of a trisomic boy. Thanks to the prevailing culture of sexism in the sciences, Dr. Gautier was not provided with a camera to record her discovery. She consulted another researcher, who plagiarized and took credit for her work.
Gautier was born on September 10, 1925, in the Île-de-Frances. As a child, she had a passion for pediatric science. Gautier followed her older sister, Paulette, to the Faculty of Medicine of Paris in 1942. Paulette was killed by a stray bullet in Paris, a city at war, when a fight broke out between German troops and members of the French Resistance.
Gautier remembered Paulette’s valuable advice to her: “Don’t forget, we are mere women, and to succeed, we have to work twice as hard as men.” Following this, she interned at Bicêtre Hospital while researching pediatric cardiology. She was one of two women in the program and studied under Robert Debré. Debré secured a scholarship for Gautier to study abroad at Harvard University in 1955.
Returning to Paris in 1956 after a year at Harvard, Gautier started working in the Trousseau Hospital in the lab of Raymond Turpin, who researched Down Syndrome. In the same year, Swedish scientists had observed that humans had 46 chromosomes, in 23 pairs of two. With this new information, Turpin suspected that Down Syndrome was caused by an abnormality in the number of chromosomes and proposed to count them. Yet, they lacked scientists familiar with cell culture. Gautier was experienced in this subject, and Turpin agreed for her to take charge of the project.
France, still recovering from WWII, did not provide funding for Gautier’s scientific research. She used loans to purchase supplies to culture cells and supplemented them with serum from her own blood. After, she tested the cells of children with Down Syndrome and compared them to the cultured ones. The results showed that children with Down Syndrome had 47 chromosomes while the cultured cells had 46. This was the first sign that this chromosomal abnormality was linked to Down Syndrome. However, because of her minimal budget, she didn’t have the equipment to record this information. Consequently, Gautier handed her slides over to another researcher, Jérôme Lejeune, who offered to photograph the slides in another laboratory with the technology.
After imaging Gautier’s discovery, Lejeune failed to return the slides. Instead, he reported it to Turpin, who, at the International Congress of Human Genetics conference, claimed it as his own discovery. In 1959, the findings were published with the first author being Lejeune, the second being Gautier (with her name misspelled as Gauthier), and the third being Turpin. After this publication, Lejeune was crowned “father of trisomy 21.” Outraged at this act of disrespect, Gautier left the field of genetics, devoting the rest of her career to pediatric cardiology.
For 50 years, the scientist who observed the abnormality in Down Syndrome was unacknowledged. Throughout history, women have gone unrecognized for their key role in scientific discoveries. For example, Rosalind Franklin’s work on discovering the double helix structure of DNA was plagiarized by James Watson and Francis Crick. Unfortunately, Gautier was never truly credited for her work.
At Concord Academy, students conduct research into many topics. Acknowledging past mistakes and injustices regarding the topic of plagiarism, we should learn from them and not repeat these errors. Scientific knowledge is something that should be shared with everyone, but should also memorialize and honor the original discoverers. The tragic story of Marthe Gautier teaches us about the impact of plagiarism and the importance of credit to the original author. At our school, injustice derived from credit can also happen. Therefore, it is important to always acknowledge the original author and avoid this from escalating into greater problems.