If today we talk about Down Syndrome and have more clarity about the disorder, it is all thanks to Marthe Gautier who played a key role in discovering that Down Syndrome is the alteration of the 21st pair of chromosomes. However, she was pushed into darkness and her efforts were snatched away by another’s claimed discovery.
Born on September 10, 1925, Gautier grew up on a farm in a family of seven. Her mother aspired that her daughters receive education and attain higher positions in society. In 1942, she joined her sister in Paris and spent the next four years as an intern gaining clinical experience in paediatrics, which further increased her passion in the field.
In 1955, when she had submitted and defended her thesis on paediatric cardiology under the guidance of Robert Derbe, he offered her a scholarship in Harvard University. His motive was to help her attain knowledge in paediatric cardiology, alongside eradicating rheumatic fever and other cardiovascular diseases. After a year in Boston, she joined researcher Raymond Turpin’s team, who defended her hypothesis that there was a chromosomal origin in Down Syndrome.
He also proposed the use of cell cultures to test it and count the number of chromosomes in affected children. However, Turpin had little confidence in her abilities and instead focused on other projects while sending colleague, Jacques Lafourcade, to look into her work. Very soon, Jerome Lejeune began frequently visiting Gautier’s lab.
He had been studying Down Syndrome under Turpin’s guidance since 1952 and had authored a paper together after studying the fingertips of people with the disease. When she was unable to find the exact chromosome with her low-power microscope, she lent the same to Lejeune who had access to a photo microscope that could document her discovery.
Gautier naively handed all of her slides to him, eagerly waiting to see the resulting photos thereafter. However, in August 1958, Lejeune presented Gautier’s methods and discoveries as his own. Six months later, she was shocked to see the discovery of the extra chromosome 21 published in research, with Lejeune’s name first and hers second (and even misspelt).
It was not until 1994 that France’s INSERM medical research institute said Lejeune was unlikely to have played the dominant role in the discovery. But by then, the world had already named him the ‘Father of Trisomy 21’.