Who Discovered the Cause of Down Syndrome ? Episode Two
31:48 Share

This episode is brought to you by Progressive Insurance. You chose to hit play on this podcast today. Smart choice. Make another smart choice with AutoQuote Explorer to compare rates from multiple car insurance companies all at once. Try it at Progressive.com. Progressive Casualty Insurance Company and affiliates. Not available in all states or situations. Prices vary based on how you buy.

I'm Lorena Galliott, and this is Lost Woman of Science. This week, we bring you part two of our special series on the late French doctor and scientist, Marthe Gauthier. In the 1950s, Marthe played a key role in the discovery of the chromosomal origin of Down syndrome. But for 50 years, a male colleague took all the credit. What happened to Marthe after she was sidelined on a paper with the results of an experiment that she led?

And what impact did her groundbreaking research have in the field? All this in today's episode. It's something that, till this day, I still cite that paper when I write my papers. That's Dr. Liz Head. She's a professor and vice chair for research at the University of California, Irvine. Her research is focused on trying to find ways to treat Alzheimer's disease in people with Down syndrome. Here, she's talking about that 1959 paper.

The paper authored by Jérôme Lejeune, Marthe Gauthier, and Raymond Turpin, in that order. The paper confirmed two things. One, Down syndrome is a genetic disease. And two, it's caused by an additional third chromosome in the 21st pair. That's why it came to be known as trisomy 21.

In my first sentence of every introduction of every science paper I write is, "Down syndrome is, and it is caused by..." And I always cite that one paper. But that paper is rock solid. It's held for a very long time. The paper provided criteria for formal diagnosis. That means if you have an extra 21st chromosome, you have Down syndrome. And there are several reasons why this is important. The good part of having a diagnosis

for a condition is that it becomes recognized by the medical community and the appropriate care can be given to a person with a diagnosis. Parents of children with Down syndrome could intervene early. They could access resources and communities and doctors to provide the best quality of life for their child.

And starting in the mid-1970s, prenatal genetic testing also gave parents a choice. The option of aborting a fetus diagnosed with Down syndrome. Abortion became legal in France in 1975. But that wasn't something that the original research into the cause of Down syndrome could have foreseen. What the research most certainly did do was open the door for other forms of genetic research, like the kind of work that Liz Head does. For...

Those of us who are, you know, trying to understand and figure out ways to promote healthy aging in people with Down syndrome, that was a huge discovery that really broke the field open for us. David Wright, the genetic historian we heard from in Episode 1, goes one step further.

The discovery of, as it were, the chromosomal causes of the most common form of developmental disability being identifiable as a trisomy, right, was itself something that most people expect to believe to a Nobel Prize, right? It was that groundbreaking. Today's episode, Who Discovered the Cause of Down Syndrome? This is part two. ♪

But Jérôme Le Hyen not only took the discovery, but also really used it to launch his career. That's Dr. Aude Bernheim. She's a microbiologist who runs a lab at the Pasteur Institute in Paris. She knew Marthe personally. What happened then is that

The whole communication about who had discovered the chromosomal basis of Down syndrome was really made so that everything looked like Jérôme Lejeune had done this discovery by himself. And that's not reflective of the truth. As we learned in part one, it was Marthe Gauthier who conducted the cell culture experiment that led to the discovery. Her colleague, Jérôme Lejeune, offered to take photographs of the slides, then never showed them to her.

Until months later, all of a sudden, Marthe learned that Jérôme Lejeune and her boss Raymond Turpin were rushing to put out a paper with her findings. By putting his name first on that groundbreaking paper, Jérôme Lejeune understood what would happen. He knew, and most likely his supervisor Raymond Turpin knew, that the people would assume that Jérôme had led the team that made the discovery. And Jérôme never corrected that assumption. Instead, he leaned into it.

He went on a media blitz. He attended scientific conferences, he gave lectures, he gave interviews to journalists. He was making sure that the discovery was widely known. And at the same time, he was also raising his own profile and basically positioning himself as the one who discovered Trisomy 21. We heard from Jerome Legend's daughter Clara in part one. To Clara, her father's positioning was entirely appropriate. The thing is that the one who had the intuition

who wanted to go on this path, tried to really prove that it was a genetic cause, prove that that was something in the chromosome was Jérôme Lejeune. Of course, he was in the team of Turpin and Turpin let him do. And of course, Marc Gauthier came with an experience of the culture of tissue.

So it's why he wanted to publish it with their two names, because he was respectful of all the support he got from them too. But the one who was really the inventor of the idea of trying to find in this direction was Jérôme Lejeune. In any event, what most people think to this day is that Jérôme Lejeune was the discoverer of trisomy 21.

Margot Thier, for her part, remained silent, and Jerome's story became the accepted wisdom. But keep in mind that in the context of 1950s France, it wouldn't have been easy for a woman doctor, a young woman doctor, to speak out. This is David Wright again.

In the European system, if you were to more or less attack that senior professor of your unit, you might destroy your entire career. Not just your research career, but your clinical. You could be easily blacklisted. So Jerome went on to dedicate the rest of his academic career and his public life to Down syndrome. The prestige of that 1959 discovery allowed him to obtain a tenured professorship position.

sort of skipping over the usual university process. He became a source of French national pride, proof that France, even devastated by two world wars, could still compete in the scientific world. In 1962, he received the prestigious Kennedy Prize, and he failed to acknowledge Marthe Gautier in his acceptance speech. To complicate matters, Jerome also became a highly vocal pro-life advocate,

He was always a devout Catholic. And when abortion was legalized in France in 1975 and some mothers began testing for Down syndrome in utero and then aborting the fetus, he became enraged. He made it his mission to fight this. Here's David again.

And he becomes not only the figurehead of, as a word, Down syndrome, but he becomes a figurehead of the pro-life movement in France and a very good friend of John Paul II when he becomes Pope. And so he becomes very much a very polarizing figure. Jerome remained a polarizing figure until his death from lung cancer in 1994. Two years later, the Jerome Lejeune Foundation was established to continue his work and his legacy.

And what about Marthe? What became of her? Here's her great-niece, Tatiana Giraud. As a woman at the time and the daughter of a farmer and no connection in Paris, so she just could not do anything. So she preferred forgetting about that. And here's Aude Bernheim again.

She understood that she would just be put aside and would not get anything from that. And so she decided to focus on another field of work where she could make also groundbreaking progress, which was the beginning of doing cardiopediatrics. And this was really another passion for us. Pediatric cardiology took Marthe back to the roots of her medical training.

Marthe left Turpin's team in 1960 and joined a different hospital. She also opened her own private practice in her apartment. And her grandniece Tatiana makes clear that she loved the work. She had always wanted to be a patriotist and healing people. She had always wanted to care for people. And Marthe had a big life outside of work, too.

She was an artist. She painted vibrant and intricate designs on porcelain. Yeah, so she really loved art, theater. She received a lot of artists in her flat. Actually, she was a very good friend of Samuel Beckett and his wife. Really? Yeah. On top of her art and her friendship with people like the playwright Samuel Beckett, Marth certainly didn't give up research.

In addition to her work at the hospital, she ended up working at Inserm, which is a French national research institution. She published many papers on, among other topics, congenital heart disease, infant rheumatic fever, and pediatric liver diseases. And she pushed to get more responsibility and more recognition. When we were reporting this story, I went to the Inserm archives to learn more about Matt's research career.

Marthe's file showed that her supervisors were often glowing in their praise of her work. In fact, in one of her evaluations, a supervisor wrote, But despite this praise, it turns out that throughout her time at Inserm, starting in 1973, Marthe applied to become a Research Director I, basically the highest research level you can attain in a French national research institute.

She applied every year until her retirement, for 17 years. But she was passed over every single time. In the later years of Math's career, evaluators noted that she was up against younger researchers who had access to more modern technologies. But she never stopped throwing her hat in the ring. Remarkably enough, she didn't quit. One thing that was very strong was her love for science and her passion.

Here's what Bernays began. And I think the fact that despite everything that happened, she loved her career. She loved her accomplishment. More after the break.

Marguerite Hilferding basically created the field of psychoanalysis that Freud and Jung credited in their papers, yet no one's heard of her. Dr. Charlotte Friend discovered the Friend's leukemia virus, proving that viruses could be the cause of some types of cancers. Yvette Cochois discovered the element astatine and should have won the Nobel Prize for that.

Is there a lost woman of science you think we should know about? You can tell us at our website, lostwomenofscience.org, and click on Contact, where you'll find our tip line. That's lostwomenofscience.org, because it takes a village to tell the stories of forgotten women in science. So for 50 years, this is how things were. Maths led a respected but lower-profile career, while Jérôme Lejeune was publicly hailed as the discoverer of trisomy 21.

But within French medical circles, another version of this story was quietly circulating for decades. Actually, the French medical community respected Martha's role in the discovery from very early on. That's Marc Brodin. He's a pediatrician, a public health expert, and importantly to this story,

a former member of the Ethics Committee of INSERM, the research institute where Marthe spent so much of her career. Marthe met Marthe Gauthier in 1974. At the time, he was a young resident at the Kremlin Bicêtre Hospital, and she was a respected cardiologist working closely with Marthe's boss, Professor Daniel Alagil.

Marc remembers clinical staff meetings where Marthe was invited to speak as an expert. In the medical meetings, Professor Alagil always introduced Marthe as the discoverer of Trisomy 21. For him, there was no ambiguity as to who had discovered what. He knew how it actually happened. But even if her peers recognized her contribution...

For many years, Marthe chose not to speak publicly about the subject, even after Jérôme Lejeune's death in 1994. Fast forward 15 years to 2009. It's the 50th anniversary of the discovery. That year, some of Marthe's colleagues urged her to write an article telling her side of the story. And this time, she agreed. After 50 years, Marthe was finally speaking out.

In March 2009, the French journal Médecine Science published Marthe's article. It's called "50th Anniversary of Trisomy 21: A Look Back at a Discovery." Médecine Science was a specialist publication that didn't have a super wide audience. But Marthe didn't pull any punches. She did not describe working closely with Jérôme Lejeune on her experiment. She did remember him dropping into her lab and taking a vivid interest in her work.

And she described feeling pushed aside and kept in the dark after Jérôme Lejeune took the slides she had so painstakingly created. I had a sense of what was going on behind the scenes, but I didn't have the experience nor the authority to confront it. I was too young to know how the game was played. I have no pleasant memories from that time, during which I felt cheated in every way.

What Gaultier objected to was Lejeune convincing Turpin, who knows who made the decision, to put Lejeune first and Gaultier second. That was David Wright again. He's talking about that famous 1959 paper. The One Remaute was listed as second author, and her name was misspelled.

That's what she objected to, not that Lejeune shouldn't be on necessarily, he did the photography art, but that she should have been first author. The timing of Marthe's expose in 2009 is worth untangling. Two years earlier, Jérôme Lejeune's supporters had petitioned then-Pope John Paul II to declare the scientist venerable in the Catholic Church.

They cited his pro-life stance, his dedication to disabled patients, and the exemplary life he led. To be named venerable or beatified in the Catholic Church puts someone on the path to sainthood. If Jerome Lejeune was beatified, people could pray to him. And if their prayers were answered and it was established that Jerome had caused a miracle, he could be declared a saint. This did not go down well with a number of people.

Remember the Scottish scientists that Lejeune and Turpin had rushed to be when they first published the discovery in 1959? They wrote to the Vatican to voice their concerns. We write to you to draw your attention to some of Jérôme Lejeune's actions, which we believe should be taken into account when consideration is being given to his beatification.

When Professor Lejeune first spoke of his findings at a conference in Montreal, he did not mention the part that Madame Gaultier had played and claimed all the credit for himself. Furthermore, when he was presented with the Kennedy Prize in 1962, he again failed to acknowledge the crucial role that Madame Gaultier had played in this important discovery, thus again claiming all the credit for himself.

We believe that to make such an error on at least two separate occasions suggests that the omissions were deliberate and had the sole purpose of enhancing his own reputation. Jerome Lejeune's supporters, however, never gave up. And in 2021, Jerome was declared venerable in the Catholic Church by the new Pope, Pope Francis. Once Marthe decided to speak out in 2009, she continued to be vocal.

her longtime reserve disappeared, and she began telling more and more people about how she felt robbed of her discovery. Gauthier would come out and say, hey, let's wait a second here, right? He was not, and I mean, I don't mean to be too flippant, he was not the saint that some people are painting him out to be, and his life was more complicated. This brings us to 2014.

Back to the incident you heard about at the beginning of part one, when Marthe lost all of her hair. In January 2014, the French Society of Genetics decided to honor Marthe for her lifetime contributions to scientific research. They were going to present her with a medal at a big conference in Bordeaux. Marthe, then 88 years old, was set to give a speech about what happened, about how she was overlooked, but it was not to be.

At 7 a.m. on the morning of the conference, there was a knock on the door of Marthe's hotel room. Two bailiffs were waiting to speak with her in the lobby. Marthe hurried down, and these two stern-looking men tell her and the conference organizers that they were court-mandated to record Marthe's speech. There were some foundations called Fondation Le Jeune,

that decided to send people to officially record what would be said during this conference and that could be used against Marthe Gauthier. Old Bername again. Her father, Alain Bername, was the president of the French Society of Genetics at the time this all went down. It was really to intimidate everyone.

And to intimidate her. And they really have tried hard to actually push and fight back so that her recognition and contribution would not be known. The organizers decided to cancel Matt's talk on the morning it was supposed to happen. They were worried about the legal recourse.

So there was really a sense of like, this has never happened. What's going on? We don't understand. And so that was really problematic. Instead of a grand awards ceremony, Alain Bernheim presented the medal to Marthe in her apartment the following day. But Marthe was deeply, deeply upset. Why? Why would they do that now? Why would they do that to me again, you know? Getting indeed silenced again was really hard to take.

And this, according to her great niece Tatiana, is what caused Marthe's hair to literally fall out. And she wore a wig for the rest of her life. But as devastating as this incident was to Marthe, the Lejeune Foundation's effort to silence her didn't succeed. In fact, it completely backfired. I really do feel that this specific event was the basis of really this story exploding and getting known. And the...

Because it was so shocking, many media reported on the fact that bailiffs were sent at a scientific conference to prevent someone from telling her story. Why would you want to prevent an 88-year-old woman from getting a prize and speak about how she discovered or helped discover this amazing thing? In what world is that okay?

Not long after this happened, the French Institute in CERM asked its ethics committee to investigate the authorship dispute between Marc Gauthier and Jérôme Lejeune. The person tasked with leading the investigation was Marc Bourdin, who we heard from earlier in the episode. In order to reconstruct the story in 2014, I was able to meet with Mr. Aicardi, who was then still alive.

Here, Marthe is talking about one of the people he interviewed during the investigation, a retired doctor named Jean Ecardi. Dr. Ecardi turned out to be a key witness. He was one of the other two French fellows who traveled to Harvard on a scholarship in the same year as Marthe Gauthier. And when they returned, he also happened to get a position on Raymond Turpin's team in Paris along with Marthe. So he saw her work.

Dr. Icardi was able to confirm two key things. One, Marthe Coty learned advanced cell culture techniques during her time at Harvard. And two, at her return in France, she was the only person on Turpin's team with any knowledge of the technique and the only person able to conduct the first chromosomal experiments.

So the ethics committee's conclusion was that Marthe Gauthier was a decisive person in the discovery of the extra chromosome, simply because others on the team did not yet have the skill to do it. There was no ambiguity in that regard. The report was clear. Given the context of the time, Marthe's contribution to the discovery of the extra 21st chromosome

was more significant than that of Jérôme Lejeune. Jérôme Lejeune helped divulge this important discovery. But it's important to keep in mind that if Marthe Gauthier hadn't discovered that chromosome in the first place, M. Lejeune, at the time, would have had nothing at all to talk about.

In fact, what the INSERM committee tried to do was to calm the debate by restating clearly that discoveries are hardly ever a solitary achievement. They are the work of a team. That's absolutely true. Most scientific discoveries are a team effort. Here's geneticist Liz Head on that point. You have to have somebody who's asking the question. You have to have a group that knows how to answer it.

And then you still need one more piece, which is somebody looks at the data and says, oh, that is meaningful. That is important. Liz raises one of the trickiest questions in the story, perhaps one that can never be answered. And that is who on Turpin's team in 1958 first looked at the cell cultures that Marc Gauthier produced and thought, oh, this is meaningful.

Jérôme Lejeune's daughter, Clara Guémard, is absolutely certain it was her father. The thing which is very important is that this believing that there were something genetic and something about chromosome was really what Jérôme Lejeune was believing in. Trupin was a bit skeptical. Margautier was helpful, but she was a cardiologist.

And we don't understand why it comes 50 years after with the idea that she was the one who made the discovery because she was not in genetics and she was not interested in it afterwards. There are certainly examples throughout history of important discoveries where one person did the work and another person saw the significance. It happens. In 1938, for example, physicist Lise Meitner realized that her collaborator Otto Hahn had split the atom.

while he at first did not. But Marthe would argue that she fully knew the significance of what she was working on. Otherwise, why would she have gone to such lengths, even taking out a personal loan to fund her research? And it's worth noting that the descendants of Raymond Turpin, Marthe and Jérôme's boss, also publicly took issue with the claim that Lejeune had the initial intuition.

In 1996, their lawyer sent a letter to the Lejeune Foundation, demanding that they stop describing Lejeune as the sole discoverer of trisomy 21. So we're left with two versions of the story. The one in Clara's mind, where her father had an intuition, a vision, and Marthe Gauthier simply brought the technical knowledge to execute it. And the other version, the one that Marthe repeated again and again later in her life.

How, when she was a young scientist at the start of her career, she gave her money, her own blood, and countless hours of painstaking research to advance a groundbreaking discovery, only to be sidelined by an ambitious male colleague. As a historian, it really is an interesting challenge. It's conflicting accounts, whereby each of the protagonists has a different take on the

you know, some of the specifics are not easy to reconcile. That's my most polite way of putting it. I want to be fair and balanced and fair to, you know, fair to Lejeune, right? I'm not here to, like, attack the legacy of Lejeune. I don't, never knew him personally, you know, and clearly he had some contribution. But to do my best as a historian to be fair and balanced. But, you know, it's hard as a historian not to look back and say,

Given the hierarchy, the culture of scientific research, patriarchal nature of medicine at that time, this seems pretty likely the things she's describing. Maybe it was the patriarchal nature of medicine and scientific inquiry in France that made Marthe keep quiet for so many years. That seems believable on the one hand, and very unfair on the other. But the fact remains that she did speak up, even if it was decades later.

And when she did, the scientific community was ready to listen. In November 2018, Marc Gaultier woke up to a piece of unexpected news. My niece woke me up one morning and said, you've got an email, a new email, you're now a commander. I said, what? What are you talking about? What's this commander business?

That's Marthe, describing the moment she got the news that she was being appointed to the rank of Commander of the National Order of Merit, France's highest civilian distinction. The efforts of her friends and colleagues to fully recognize her contribution to science finally paid off. She was 92 by then, and much less active. She received the award in a small ceremony in her Paris apartment.

Aude Bernays was there. With this award, it was recognizing that as the French society in general had somehow understood they owed something to Marthe and that they recognized that she had made an amazing contribution to science. Marthe died four years later at the age of 96. What I actually choose to remember is that behind all of these great discoveries, usually there are women scientists that

somehow just want to do great science and that are passionate and that if we would not prevent them from doing that, scientific progress would just be even greater. Today in the U.S., the majority of clinical geneticists are women. But as in most medical fields, they remain a minority in senior leadership positions. Aude Bernheim hopes that recognizing pioneers like Marthe

will inspire more women to pursue the highest levels of research. As for Marthe, the recognition may have simply brought her a sense of closure in the final years of her life. Here's Marthe's great-niece, Tatiana Giraud, again. I think she was really happy that finally her discovery was organized. Yeah, and very proud. Now, I finally got my due. My work is in the light. It's in the light.

This has been Lost Women of Science. This episode was produced by senior producer Sophie McNulty and me, Lorena Galliott. Hansel Shi was our sound engineer. Lexi Attia was our fact checker. Our thanks go to co-executive producers Amy Scharf and Katie Hafner, senior managing editor Deborah Unger, and program manager Eowyn Bertner. Thanks also to Jeff DelVisio at our publishing partner Scientific American.

Audio of Marc Gauthier's interviews is from INA, the French Audiovisual Institute, and from Wax Science, a non-profit promoting women in science. We're grateful to Hélène Chamfort and the archivists at INSOM, to the Jérôme Lejeune Foundation, as well as to Laurent Pfeil and Céline Curiolle for their help with this episode. Lost Women of Science is funded in part by the Alfred P. Sloan Foundation and the Anne Wojcicki Foundation.

This podcast is distributed by PRX. You can learn more about our initiative at lostwomenofscience.org. And don't forget to click on that all-important omnipresent donate button. Follow us on Facebook and Instagram at Lost Women of Sci. That's at Lost Women of S-C-I. Thank you so much for listening. I'm Lorena Galliott.

Hi, I'm Katie Hafner, co-executive producer of Lost Women of Science. We need your help. Tracking down all the information that makes our stories so rich and engaging and original is no easy thing. Imagine being confronted with boxes full of hundreds of letters in handwriting that's hard to read or trying to piece together someone's life with just her name to go on. Your donations make this work possible.

Help us bring you more stories of remarkable women. There's a prominent donate button on our website. All you have to do is click. Please visit LostWomenOfScience.org. That's LostWomenOfScience.org.