After scientists had a handle on how many chromosomes humans have, other researchers began exploring whether certain ailments might be caused by chromosomal abnormalities. To this end, a French cardiologist discovered that Down syndrome was caused by the presence of an extra chromosome in humans. But a colleague allegedly stole credit for her work, and the battle over their legacies continues to this day, in part because the colleague is on track to become a certified Catholic saint.

About The Disappearing Spoon

Hosted by New York Times best-selling author Sam Kean, The Disappearing Spoon tells little-known stories from our scientific past—from the shocking way the smallpox vaccine was transported around the world to why we don’t have a birth control pill for men. These topsy-turvy science tales, some of which have never made it into history books, are surprisingly powerful and insightful.

Credits

Host: Sam Kean
Senior Producer: Mariel Carr
Producer: Rigoberto Hernandez
Associate Producer: Sarah Kaplan
Audio Engineer: Rowhome Productions

Transcript

The talk didn’t start for hours. So the organizers were confused to see two guests arrive. Especially because they weren’t scientists. They were law-enforcement agents—bailiffs. And they had cameras and microphones—along with a court order to record the upcoming talk. 

The year was 2014, in Bordeaux, France. An 88-year-old cardiologist named Marthe Gautier was receiving an award and giving a talk on her role in discovering the cause of Down syndrome.

The lecture organizers asked why on earth the bailiffs had court orders to record the talk. The men answered that there were rumors that Gautier would be libeling someone during the talk, her former colleague Jérôme Lejeune.

In fact, the bailiffs demanded to look at the slides that Gautier planned to show during the talk. And in going through them, they pointed out several that they deemed libelous.

By this point, the conference organizers were panicking. Would they be allowed to hold the talk? The bailiffs insisted yes. They didn’t want to censor anything.

At the same time, they added, darkly, if Gautier libeled Lejeune, even slightly, the 88-year-old grandmother would face the full fury of the law.

Marthe Gautier was born in 1925, the fifth of seven children to farmers in rural France. In 1944, her oldest sister was killed in Paris by Nazi troops. The sister had been a medical student, and Marthe followed in her footsteps, becoming a pediatric cardiologist. 

In 1954, Marthe secured a job in Paris but deferred it for a year to accept a fellowship at Harvard. Upon arriving in Boston, she had just 24 whirlwind hours to find an apartment and furnish it before reporting for work the next day. There, she learned cell biology, including how to culture cells in Petri dishes with incubators and serum. It was cutting-edge stuff.

Upon returning to France, she learned that the job she’d been promised had gone to someone else. Frustrated, she took a job she wasn’t thrilled about, doing research at a French hospital. She was one of just two women among the eighty residents there. 

Her research team was studying Down syndrome, a subject that she, a cardiologist, knew nothing about. But in fact, it was an exciting time in Down syndrome research.

The genetics of Down syndrome was puzzling. If one identical twin had it, the other always did, too. So there was clearly a genetic component. At the same time, it didn’t run in families like most genetic disorders. So what was going on?

Then came an inspired suggestion. The head of Down syndrome research at the hospital was Raymond Turpin. He proposed that Down syndrome resulted from a problem with people’s chromosomes, the bundles of DNA in our cells. Perhaps people with Down syndrome were missing a chromosome. Turpin wanted to examine the cells of people with Down syndrome and count their chromosomes.

Unfortunately, as we heard last episode, that’s far easier said than done—like staring into a bowl of spaghetti and trying to count the number of noodles. Scientists didn’t even know how many chromosomes humans have. 

But in 1956, biologist Joe Tjio announced at a conference his discovery that humans have 46 chromosomes. Turpin happened to attend that conference, and the talk electrified him. He realized that he could adopt Tjio’s technique for preparing cells and then examine the chromosomes of people with Down syndrome.

Turpin returned to his hospital excited. Then he realized there was a problem—a major one. 

Tjio’s technique for counting chromosomes required culturing cells. And as far as he knew, no one in France had the skills to do that.

But when he explained the problem to his staff, Marthe Gautier raised her hand. She’d learned how to do that at Harvard. Turpin practically began jumping up and down in excitement. He put her on the job right away.

Still, Turpin didn’t back up his enthusiasm with much support. He set Gautier up in a bare lab with just a fridge, centrifuge, and a cheap microscope. He didn’t pay her a salary, and she in fact took out a loan to buy glassware. For the serum to keep the cultured cells alive, she withdrew blood from her own arm.

Despite these handicaps, Gautier developed a new dye to make the chromosomes stand out more. She also developed an innovative technique of drying her cells a bit on her slides. That made them spread out, which made counting easier. 

She started by counting cells in people without Down syndrome, to practice. Everything worked great. Time after time she got 43…44…45…46 chromosomes. Perfect. 

Then, in early 1958, she got some cells from a Down syndrome patient. She cultured and stained them, then deposited them on the slide to count: 43…44…45…46…47. Huh. She recounted with some different cells—and got 47 again. 

It was another golden moment. People with Down syndrome didn’t lack chromosomes. They have too many.

Even today, scientists don’t quite know why the extra chromosome causes the symptoms of Down syndrome. The best guess is that having three copies of one chromosome results in having three copies of each gene on that chromosome as well, instead of the normal two. When a fetus is developing, that causes the overproduction of certain proteins. And somehow, that overproduction derails normal development. 

For example, having three copies of the APP gene leads to the overproduction of the so-called amyloid beta peptide. This in turn causes snarls and tangles of proteins in the brain, which leads to impaired brain function in Down syndrome. Other symptoms probably arise for similar reasons.

Regardless of the details, the extra chromosome does cause Down syndrome—and Marthe Gautier had just discovered this fact in her lab. Only one question remained. Which chromosome was it?

Again, humans have 46 chromosomes, divided into 23 nearly identical pairs. Two are the X and/or Y chromosome. That leaves 22 other pairs. The longest pair are called chromosome 1. The second-longest pair are called chromosome 2, and so on, down to the stubs of chromosomes 21 and 22.

Now, if Gautier had found that Down syndrome cells have an extra copy of chromosome 1 or 2, she could have determined its identity easily. Those are long chromosomes, and they look distinct.

Unfortunately, the extra chromosome proved to be one of the stubs. And even when she squinted, she couldn’t make out which one it was. Maybe 21, or 22? To her frustration, she simply couldn’t tell with her cheap microscope.

Right when her frustrations were boiling over, another doctor came knocking. Jérôme Lejeune worked in the Down syndrome ward at her hospital. And by all accounts, he was truly dedicated to his patients—selfless, compassionate. A saint.

Lejeune had heard about Gautier’s research and dropped by. She explained her frustrations, and he sympathized. He even offered to take her slides to another clinic with better microscopes, to nail down the identity of the extra chromosome.

His generosity thrilled Gautier. She handed her slides right over—a moment she would regret the rest of her life.

Jérôme Lejeune was good to his word. He took Marthe Gautier’s slides to a lab with better equipment. There, he himself determined that the extra chromosome was number 21. People with Down syndrome have three copies of it. It was a landmark achievement, tracing a medical disorder all the way down to a chromosome—a sure-thing Nobel Prize. 

But Lejeune did not tell Gautier what he discovered. For her, an empty month passed, then a few more. Even after six months, she still hadn’t heard anything from the nice doctor. She started to worry.

And she had good reason to. Behind her back, Lejeune secured samples from two more Down syndrome patients. He confirmed that they also had three copies of chromosome 21.

Finally, after seven months, Lejeune returned to Gautier’s lab—and handed her a paper he’d written on “his” research.

Gautier was stunned. What was this paper? Then she glanced at the names, and her shock turned to anger. Lejeune had listed three authors—his first, then hers, then Raymond Turpin, head of the department. 

That order implied that Lejeune had done the most important work—and would therefore get the credit. Gautier was listed second, where you would normally put a technician.

And to add insult to injury, Lejeune had misspelled Marthe Gautier’s name. Both of them.

But Gautier couldn’t do anything. French hospitals had hierarchies as strict as the military, and Lejeune stood two full ranks above her. Unlike Joe Tjio, she swallowed her protests and let the paper get published—misspelled name and all.

Now to be somewhat fair, Lejeune always mentioned Gautier in interviews about the work, and he praised her. He also insisted that he couldn’t have identified the 21st chromosome without her. 

But as the years passed, media stories began to heap praise on Lejeune as the sole discoverer of the cause of Down syndrome, and he didn’t exactly go out of his way to dispel that notion. He just sat back and basked in the praise.

In fact, Lejeune almost certainly would have won a Nobel Prize, except for one thing. 

Lejeune was very Catholic, very devout. And he followed the Catholic line in opposing abortion. He was especially upset that his work made genetic screening possible. Because of him, in countries where abortion was legal, doctors could now withdraw amniotic fluid from pregnant women, screen the fetuses’ chromosomes for Down syndrome, and abort the fetus if the parents desired.

Lejeune considered this an abomination. He spoke out passionately against it. He’d always cared deeply for people with Down syndrome, and he didn’t want them culled. 

But this stance put him at odds with virtually all of his colleagues, who supported abortion. Lejeune got into so many fights over this, that he basically argued his way out of a Nobel Prize. No colleague would even nominate him.

And the real irony is this: Joe Tjio in Sweden had first counted 46 chromosomes using lung tissue from aborted fetuses. Which means Lejeune would never have made his discovery if abortion had not been legal in Sweden. But Lejeune didn’t care.

Eventually, Lejeune died of lung cancer in 1994. In his honor, his family established a foundation to continue his work of caring for patients with Down syndrome.

But that’s not all the foundation does. It also aggressively defends his legacy—including against what it calls the revisionist “smears” of Marthe Gautier. 

After the original, misleading paper about Down syndrome and chromosome 21 appeared, Gautier dropped out of biomedical research and became a respected cardiologist. And she didn’t hate Lejeune. They continued to exchange letters, and she addressed him as her “dear friend.”

But in 2007, something funny happened. Although Lejeune’s anti-abortion stand probably cost him a Nobel Prize, it also won him the friendship and admiration of Pope John Paul II and the Vatican. As a result, Lejeune was adored in Catholic circles. So much so, that his admirers started pushing to canonize him as a saint.

In addition, 2009 was the 50th anniversary of the key Down syndrome paper, and newspapers began running retrospective stories. Stories that always mentioned Lejeune but never Gautier.

And this pissed Gautier off. She realized she was being written out of history. And to be clear, she never tried to take full credit; she never claimed she’d identified chromosome 21. But only because she’d never had the chance. She also insisted she’d first identified the presence of 47 chromosomes overall.

So in 2009, Gautier went to the media and started telling her story. She found sympathetic ears. Scientists and historians had finally started reckoning with the scores and scores of women like her who’d had credit stolen from them, in many scientific fields. Gautier was a perfect example.

For its part, the Lejeune foundation dismisses Gautier’s claims. Unlike Lejeune himself, they attribute both the identification of chromosome 21 and the discovery of the 47th chromosome to Lejeune alone.

As evidence, the foundation points to Lejeune’s lab book. There, in May 1958, he clearly stated that he could see 47 chromosomes in Gautier’s slides. Unfortunately, Gautier doesn’t have any comparable records from an earlier date. It’s not clear whether she was lax about recording things or just lost her notebook. But there’s zero hard evidence linking her to the discovery. It’s just her word.

In addition, in October 1958, the department head Raymond Turpin wrote a letter in which he mentioned that Gautier was still finding 46 chromosomes in her cells—not 47. 

Now, this letter came from Turpin, not Gautier. So maybe he misunderstood her work, or was simply wrong. He wouldn’t be the first oblivious boss in history. But it doesn’t look great for Gautier’s cause.

In addition, the foundation also questions why Gautier and Lejeune kept exchanging warm letters. They ask why, if Lejeune really stole credit, she remained so friendly?

Despite these arguments, most of France took Gautier’s side. And there was such a swell of support that in 2014, the French Foundation for Human Genetics awarded Gautier a top prize. She was 88 years old then, but better late than never.

Except, the ceremony to award the prize never happened. The Lejeune foundation caught wind of it and sent two bailiffs to court to secure permission to record her talk. The bailiffs also barged into the lecture hall early, demanded to see her slides, and muttered darkly about libel.

In a somewhat cowardly move, the geneticists running the ceremony decided to cancel it. They feared being sued into bankruptcy. Then they slunk over to Gautier’s hotel room, where they handed her the medal, still in its box. They also later lied and told the public she’d been too sick to appear.

But if the Lejeune foundation thought they’d won this confrontation, they were wrong. Honestly, Gautier’s talk probably never would have received much attention outside France if it had taken place as scheduled. But the foundation’s tactics—effectively shutting down a scientist with threats of lawfare—stirred up a mess of controversy. As a result, far more people heard about the affair—and also heard Gautier’s side of things. Sometimes life is ironic like that sometimes.

And the really frustrating thing is that there’s plenty of credit to go around. People often like to reduce science to a-ha moments: to Gautier seeing the 47th chromosome and leaping up and screaming “oui, oui, oui!”

But even she admitted, that wasn’t enough. Although he used underhanded means, it was Lejeune who determined that the extra chromosome was number 21. Importantly, he also did the work to confirm that in other cases. 

But even if you dismiss Lejeune, what about Raymond Turpin? After all, it was him who first proposed that people with Down syndrome have chromosomal abnormalities—a big leap. Without him, neither Gautier nor Lejeune could have done their work. It’s quite rare for one person to discover something alone.

And in some ways, this story is still being written. Gautier died in 2022. But a year earlier, Lejeune’s bid for sainthood took a big step forward when the Vatican officially venerated him. Papal officials are now investigating whether they can attribute any miracles to Lejeune, the next step in canonizing him. If that happens, expect to hear more impassioned defenses, and more rabid denunciations, about the sins of this would-be saint.