Her research
Past research on trisomy 21
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A karyotype is the visualization of chromosomes in the metaphase state of cell division, ordered primarily by length, centromere location, and sex chromosomes (Ferguson-Smith and Trifonov 2007).
Trisomy 21
Trisomy 21
What is it?
Trisomy 21, formally known as Down syndrome, has been known historically for centuries, although it was only recently scientifically identified as a mental disorder in 1866 by Dr. Down (Down 1866; Bernal and Briceno 2006). It is characterized by flat and broad faces, large and round cheeks, wrinkled foreheads, small noses, and other distinctive features (Down 1866). These features have been considered to be reminiscent of Mongolian peoples, leading to the derogatory term "mongolism" being used, which has since been abandoned (Down 1866; Gautier and Harper 2009). Interestingly, because of its prevalence in all ethnicities, it has been used as early evidence of equality among all people (Down 1866). The karyotype has only been recently described, showing an extra chromosome on the 21st pair of chromosomes, leading to the term trisomy 21 (Gautier and Harper 2009). It is the discovery of this karyotype that led to so much trouble for Dr. Gautier.
In 1937, before Marthe Gautier's work, Down syndrome was believed by some to be a chromosomal anomaly similar to that found in fruit flies (Gautier and Harper 2009). However, no proper evidence was available to support this hypothesis. More than a decade later in 1950, testicular cell samples were taken from a Down syndrome patient and a karyotype was attempted to be formed. Due to the limitation of the technology at the time, the results were that either 47 or 48 chromosomes were present in the sample (with the actual amount being 47). From this, the idea of an additional chromosome being the cause of Down syndrome was initially rejected. At the time, it was believed that humans had 48 chromosomes in total, which was eventually disproven in 1956 with the discovery that we actually have 46 chromosomes, or 23 pairs.
Leading to the discovery
Leading to the discovery
Before LeJeune
The start of the race
The start of the race
Once the number of chromosomes in standard humans was confirmed to be 46, Marthe Gautier got to work on establishing a karyotype for Down syndrome patients, all while competing with international teams attempting to accomplish the same thing (Gautier and Harper 2009). It was obvious at the time that discovering what specifics were involved in the hypothesized chromosomal anomaly which caused Down syndrome could greatly advance research into human genetics as well as light the path for the discoverer's future career.
The discovery
The discovery
Eventually, Marthe Gautier started to be visited by Jérôme Lejeune, a student of her supervisor who had a deep interest in cellular biology (Gautier and Harper 2009). Once her lab obtained some Down syndrome tissue, she made several slides of a prepared cell culture. She made her discovery using novel techniques she learned while living in the United States, which is that Down syndrome patients had an extra chromosome on the 21st pair – trisomy 21. Unfortunately, her research laboratory was underfunded due to the lingering effects of World War II, so she lacked the ability to form a proper karyotype using a photomicroscope. Due to this, she entrusted the important slides to Lejeune. He got photographs of the karyotype taken, but refused to show them to the woman who actually made the slides...
Marginalization
Marginalization
Jérôme Lejeune stated that the photographs were stored and locked away under the watch of the laboratory's director (Gautier and Harper 2009). Because of this, she could not view the images and therefore could not be certain about how the photographs of the karyotype turned out. The results were not widely available until a conference the year after the paper describing it was published, in 1960. Supposedly due to her inexperience in the medical field, Marthe Gautier was ignored by her peers and pushed aside during this time. This was spearheaded by Lejeune, as he did not want any interlopers interfering with the results, especially as he himself was inexperienced when dealing with the cell cultures used. After all this was a discovery that could greatly push forward his career.
Publication of the results
Publication of the results
During a conference at McGill University, Lejeune discussed the discovery while implying that he himself was the sole researcher on the project, completely disregarding Gautier and another key researcher who came up with the hypothesis that Down syndrome was a chromosomal anomaly, Raymond Turpin (Gautier and Harper 2009). After his return, the paper describing the newly found karyotype was quickly made and published, without Gautier even being involved, let alone being able to see the photographs. Due to her work in the project, standard protocol involves her name being listed first among the authors of the paper whilst Turpin's name was listed last due to his contribution of the hypothesis. Despite this, Lejeune listed her name second and misspelled it as "Gauthier", leaving her feeling as a "forgotten discoverer."
Needless to say, masquerading as the head discoverer, Lejeune was inundated with awards and medals, such as receiving the soon to be mentioned Kennedy Prize without acknowledging Gautier's contributions (Gautier and Harper 2009). Even Turpin was not immune to this disrespect, as his relatives attempted legal action due to Lejeune stating he was the sole discoverer.
The Story continues
The Story continues
In 2014 Gautier was set to receive a medal from the French Federation of Human Genetics for her role in the discovery of Trisomy 21. There was a meeting set in Bordeaux with an audience of young French geneticists where Gautier planned to share her side of the story. However, news of this speech made its way to the Jerome Lejeune Foundation. Worried that Gautier was going to tarnish the reputation of Lejeune, the foundation got a court order allowing them to record Gautier's speech. This caused concern for the French Federation of Human Genetics leading them to cancel the event. Gautier was still awarded the medal but it was in a private ceremony (Pain 2014).
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