My last post featured the bitter story of Marthe Gautier, a young female doctor betrayed by her male colleagues. In 1957, Gautier was a promising intern in the field of pediatric cardiology. While working in a research lab studying children with intellectual disabilities, Gautier’s ingenuity and dedication led to the discovery of trisomy 21, the chromosomal anomaly that causes Down Syndrome. Sadly, Gautier’s contribution to the field of genetic research went unrecognized for more than 50 years. Instead, Jerome Lejeune, one of Gautier’s colleagues cleverly maneuvered himself into the limelight after taking credit for her work.
A Revolutionary Breakthrough
It’s hard to overestimate the importance of Gautier’s discovery. This was the first time in scientific history that a chromosomal defect was linked to a mental disability. Until this moment, Lejeune’s professional career can be characterized as unremarkable. According to his biographer, Anne Bernet, Lejeune failed France’s medical school entrance exam 3 times. It’s unclear whether he ever passed the test. After completing his military service, Lejeune began working under Professor Raymond Turpin who was studying the possible causes of Down Syndrome. While Gautier was setting up her lab and conducting the experiments that would prove the existence of an extraneous chromosome in patients with Down’s, Lejeune was studying the preponderance of certain creases that appear more frequently in the palms of people afflicted with the disease.
My previous post describes how Lejeune, unrestrained by his mentor Turpin, managed to take full credit for the design, execution, and findings of Gautier’s experiments while traveling in North America near the end of 1958. Since the disorder was linked to an extra chromosome on pair 21, it became known as trisomy 21 and Lejeune was heralded as the brilliant researcher behind its discovery. Professor Turpin soon thereafter created a new cytogenetics department at the Paris School of Medicine and named his prodigy, Lejeune, as its chair. The appointment was highly unusual. Normally, to become a professor of medicine, you must complete a competitive residency examination. However, the process can be circumvented if a candidate is responsible for a great scientific achievement. Such was the case for Lejeune.
And the Prize Goes to…
Lejeune went on to receive numerous awards and was invited to speak at conferences around the world. In 1962, the Joseph P. Kennedy Jr. Foundation honored Lejeune, along with 5 other researchers, at a dinner in Washington DC. Multi-millionaire Joseph P. Kennedy had set up the foundation in 1946 to honor the memory of his oldest son who was killed in action during World War II.
The elder Kennedy had another less transparent reason for establishing the foundation which funded research into the care and treatment of people with intellectual disabilities. His oldest daughter, Rosemary, had struggled with learning deficits while growing up. In her 20s, she began to experience extreme mood swings and increasingly reacted with violent outbursts. Kennedy arranged for his daughter to have a pre-frontal lobotomy and the aggressive procedure left Rosemary unable to walk and with the intellect of a 2-year-old.
Since its formation, the JPKJ Foundation has helped bring about tremendous improvements in the lives, support systems, and opportunities available for people with intellectual disabilities and their families. The year 1962, however, marks the first time in the foundation’s history that prizes were awarded to researchers from around the world who had played a critical role in discovering causes of mental retardation.
Adlai Stevenson, who was serving as United States Ambassador to the United Nations, presided over the illustrious ceremony. In his opening remarks, President Kennedy expressed the importance of the achievements being recognized and personally presented the awards to the recipients. Each prize consisted of 2 checks, one to support further research and one to compensate the researcher. In Lejeune’s case, the first check for $25,000 went directly to support the research work of his lab and the second check for $8,333 (worth roughly $83,000 today) went directly into Lejeune’s pocket.
In reading Kennedy’s address, it’s startling to see how little the president understood about the fundamentals of inherited disorders. Nearly 100 years after Mendel had shown how traits can be passed from one generation to the next, the field of genetics was still in its infancy. Jerome Lejeune was not only richer, he was now positioned as one of the new field’s founding fathers.
An Erroneous Bio
Two days following the dinner in Washington, Le Monde, one of France’s leading newspapers, covered the prestigious event. The following bio for Lejeune appears in the article.
Maître de recherches au Centre national de la recherche scientifique depuis 1955, directeur de la division de génétique humaine à la Sorbonne, chef du laboratoire des maladies héréditaires à l’hôpital Trousseau, le docteur Lejeune, qui est âgé de trente-six ans, a apporté une contribution majeure à l’étude des maladies héréditaires en découvrant que le mongolisme résultait d’une anomalie des chromosomes. Ses travaux ont été commentés à plusieurs reprises dans ces colonnes, et la voie ouverte par ce chercheur et par le professeur Turpin s’est révélée fructueuse, car de nombreuses anomalies héréditaires dues à des ” maladies chromosomiques ” ont été décrites dans le monde depuis la publication, en 1959, des travaux français.
Master of Research at the National Centre of Scientific Research since 1955, Director of the human genetics division at the Sorbonne, Head of the hereditary illnesses laboratory at the Trousseau Hospital, Doctor Lejeune, who is 36 years old, has made a major contribution to the study of hereditary diseases by discovering that mongolism results from a chromosomal anomaly. His work has been written about on numerous occasions in [the columns of Le Monde], and the way forward opened by this researcher and by Professor Turpin has proven fruitful, since numerous hereditary anomalies caused by “chromosomal diseases” have been described throughout the world since the publication, in 1959, of the French team’s work.
No reference is cited for the biographical information but it’s doubtful that someone on the Le Monde staff wrote it. First, the bio is enclosed in brackets as if it was provided by an outside source. Second, anyone tracking down Lejeune’s accolades would have quickly learned that Lejeune was named a Master of Research in 1961, whereas here it states that he’d held that distinction since 1955, well before the discovery of trisomy 21. Third, there are only 2 earlier articles of Le Monde that mention Lejeune and in each case, his name appears alongside Raymond Turpin and Marthe Gautier. Only in this description of Lejeune, which was likely furnished to the newspaper, does the name of Marthe Gautier fail to appear.
Marthe Gautier would later write:
“Quoi qu’il en soit, je n’ai gardé aucun souvenir agréable de cette période, tant je me suis sentie flouée à tous égards.”
“For what it’s worth, I haven’t a single agreeable memory from that period, as much as I felt cheated in every respect.”
Jerome Lejeune’s New Crusade
The process of pairing and ordering all the chromosomes of an organism is called karyotyping. Throughout the 1960s, a worldwide race was underway to identify as many abnormal karyotypes as possible and look for ways of treating them. As the head of the Paris school of human cytogenetics, Lejeune led a research laboratory that throughout the 1960s and ’70s discovered several disease-provoking karyotypes. Lejeune’s team also developed new techniques for identifying such abnormalities, making France a world leader in the field.
As early as 1956, scientists had learned to identify the sex of a human embryo after extracting amniotic fluid from the mother. The determination of fetal sex led to the prenatal management of patients with Haemophilia A in 1960, and Duchenne muscular dystrophy in 1964. Lejeune, a devout Catholic was opposed to such procedures as they might influence a woman’s choice to terminate her pregnancy. Thus began a life of advocacy to defend the right to life of the unborn by opposing abortion as well as prenatal testing.
While Lejeune’s laboratory continued to make significant advances, his outspoken stance was not popular in the scientific community. He loudly opposed laws legalizing contraception for women (1967) or allowing women to terminate a pregnancy (1970, 1975). According to the National Institute of Health (NIH), approximately 3% to 5% of pregnancies are complicated by birth defects or genetic disorders. Some of these tiny beings will not survive birth or infancy and may adversely effect the health of the mother. Others have conditions that can be treated in utero, thus improving the survival rate and long-term health of the newborn. The medical profession generally encourages such testing since learning of abnormalities early improves the health of the mother and gives parents an opportunity to identify resources, support, and counseling that will help them and their affected child before it is even born.
A Man of Conscience
Throughout the 1970s, as debates surrounding access to contraception and abortion heated up in France, Lejeune was seen as one of the leading crusaders opposing legislation that would legalize a woman’s right to birth control. Lejeune also objected to human embryonic research. According to his biographer, Anne Bernet, Lejeune was not one to steer away from controversy when politically expedient to do so. While visiting the NIH outside of Washington DC, Jerome publicly described the institution as an “institute of death” rather than one concerned with “health”. The accusation was based on the NIH’s endorsement of and participation in prenatal experimentation and healthcare.
Lejeune’s supporters would join Lejeune in believing that his principled objections to such research and treatment lay behind the fact that he never received a Nobel Prize. Had he kept his mouth shut, he reasoned, his discovery of trisomy 21 and the work that followed would have surely landed him the ultimate international intellectual honor.
In the Name of the Father
Jérôme Lejeune died of lung cancer in 1994, at the age of 67. Shortly thereafter, his children created the Jerome Lejeune Foundation, tasked with furthering research and improving care for children with intellectual disabilities. The ultra-conservative organization also continued Lejeune’s activist ambitions, opposing the use of human embryos for scientific research and standing in the way of women’s access to prenatal testing, contraceptives, and abortion.
In 2007, after the Lejeune Foundation had advanced his name, the Roman Catholic Archdiocese of Paris declared Jerome Lejeune as a candidate for canonization. A critical step in the process of beatification involves compiling evidence of a candidate’s devotion, virtues, and impeccable reputation. A long-time witness to Lejeune’s career, the Scottish researcher, Patricia Jacobs, decided to speak up. Jacobs and her partner, John Strong, had co-discovered the extraneous X chromosome that causes Klinefelter Syndrome. Going through the customary channels of peer review, the Scottish scientists officially published their findings 5 days after Lejeune. Since 1959, Jacobs had observed Lejeune’s spotlighted ascent onto the global scientific stage and the dismissive series of actions that had thrust Gautier’s contributions into the shadows. She now wrote to the Pope, hoping to set the record straight.
A Bitter Battle
Jacobs was not the only person to expose Jerome Lejeune’s misleading assertions that he had been responsible for the discovery of trisomy 21. Several Catholic doctors across Great Britain and France also wrote to the Vatican. As a result, Gautier was summoned to testify before a beatification commission at the Archdiocese of Paris. Gautier had long since left the field of cytogenetics, enjoying a long and laudable career in pediatric cardiology. She’d swept her bitter memories of Turpin and Lejeune under the rug and moved on. She now agreed to provide her side of the story to the Catholic commission.
The Jerome Lejeune Foundation was not pleased with Gautier’s seemingly sudden interest in reestablishing her fundamental role in the discovery of trisomy 21. Years earlier, Raymond Turpin’s family had brought legal action against the institution for falsely presenting Lejeune as the sole discoverer of the chromosomal anomaly. Now, backed by numerous members of the scientific community, Gautier was further challenging their widely-touted version of history. Little did she understand the lengths to which the Lejeune Foundation would go in defending the reputation of their beloved figurehead.
The year 2009 marked the 50th anniversary of the trisomy 21 discovery. Encouraged by her fellow researchers, Marthe Gautier again recounted her story for the review Médecine/Sciences. As word of her forgotten contribution began to spread, other journals in France and elsewhere picked up the story. In 2014, the Conference of Human and Medical Genetics taking place in Bordeaux, invited Gautier to attend. To mark the occasion, members of the French Society of Human Genetics had unanimously voted to present Gautier with the prestigious society’s grand prix.
This important international meeting was attended by researchers from around the world. However, on the day proceedings were to begin, two representatives from the Jerome Lejeune Foundation showed up with orders from the court of Bordeaux to admit them into Gautier’s talk. The charitable foundation, they explained, was preparing an anti-defamation suit against Gautier and they wanted to record her talk to use as evidence. Fearing a lawsuit, the organizers canceled Gautier’s presentation. When Gautier asked if she might still attend the other talks as an interested spectator, she was denied. In her absence, the conference’s 2100 attendees were told that the 88-year-old Gautier was ill. It was thus that Gautier received her prize—a medal in a plastic bag—behind closed doors, without ceremony, nor audience, nor an opportunity to deliver an acceptance speech expressing her gratitude.
In an interview with France Inter, the author, computer scientist, and sociologist, Isabelle Collet, recalled the impact of this second renunciation:
“Dans toutes les conversations qu’on a eu, je crois que ce reniement-là, à ce moment-là, à quatre-vingt-huit ans, au moment où elle pensait enfin d’être arrivée à une certaine forme de reconnaissance… moi, j’ai toujours senti que c’est pour elle une choque encore plus terrible, quelque chose de plus traumatisant, que le vol de découverte en 1959. Je crois que vraiment cet événement à Bordeaux est quelque chose qui l’a profondément blessée.”
“In all of the conversations we’ve had, I think that this rejection, at the age of 88, at a time when [Gautier] thought that she’d finally attained a certain form of recognition… me, I have always felt that for her, this was a shock even more terrible, something more traumatizing, than the original theft of her discovery in 1959. I truly believe that this event in Bordeaux is something that hurt her deeply.”
The Final Verdict
Marthe’s story might have ended there but many in the world of medical research were appalled by yet another slight in a long list of offenses. How, they wondered, had a private foundation managed to block one of their peers—an accomplished woman who had dedicated her life to medical research and done much to elevate France’s international scientific standing—from simply sharing her story? What might such actions say about the authority of the scientific community?
A collective of researchers petitioned France’s National Institute of Health and Medical Research (INSERM) to review the case. In September 2014, INSERM released its findings. The rather lengthy document confirmed Gautier’s version of events and concluded that Lejeune’s main contribution had been one of promoting the discovery internationally. He had not played a substantial role in the conception of the project, nor in carrying out the protocol, nor in collecting the results. The discovery could not have been made without the essential contributions of Marthe Gautier and Raymond Turpin and it was regrettable that their names had not been systematically associated with the discovery. Instead, they’d been omitted from countless communications as well as the attribution on numerous honors.
That same month, Gautier was decorated as an Officer of the French Legion of Honor. On two prior occasions, she’d declined this distinction feeling that the recognition was so long overdue that it would have little significance. Besides, she was known to characterize her achievement as “simply a matter of being at the right place at the right time”. This time she announced that she would accept the honor “out of indignation towards the impudence of the Lejeune Foundation.” The ceremony was held at the Trousseau Hospital, in the same area where more than a half-century earlier, Gautier had discovered the extraneous chromosome responsible for trisomy 21.
On a rainy afternoon in her hometown of Montenils, Gautier attended a small ceremony recognizing her life’s work in front of family members and local officials. Surrounded by outstretched umbrellas, she gingerly unveiled a plaque in her honor afixed to the town’s city hall. The tribute wasn’t carried in newspapers around the world, nor did it come with a large cash prize. No one in attendance would be considering the Catholic honoree’s suitability for sainthood. But Marthe Gautier had never aspired to such distinctions. Now, nearing 90 years of age, she simply enjoyed a little attention and the knowledge that her small contribution to the vast field of genetics would be remembered.
Marthe Gautier died of natural causes at the age of 96 on April 30, 2022. She lived out her last years satisfied that her life’s work, dedicated to the study of congenital abnormalities in newborns and infants, would be accurately recorded in the history of humanity.
The Jerome Lejeune Foundation has so far not issued an explanation nor apology for its actions or its ongoing practice of attributing the discovery of trisomy 21 to Jerome Lejeune. However, they’ve added 3 characters to much of their promotional literature, now describing Lejeune as the co-discoverer of the chromosomal abnormality.
The Catholic church has never acknowledged receipt of letters from Marthe Gautier, Catholic pediatrician Dr. Jacques Coureur, or other French Catholics who have questioned Jérôme Lejeune’s suitability for beatification. In January 2021, Pope Francis recognized “the heroic virtues of Jérôme Lejeune”, advancing his path toward sainthood. The Vatican now awaits confirmation of two miracles attributed to his intercession before it can declare him a saint.
- The Joseph P. Kennedy Jr. Foundation, About Us
- Time Magazine, Medicine: Chromosomes & the Mind
- Associated Press, French doctor who made Down discovery closer to sainthood
- People Concerned with the Unborn Child, Trisomy 21, Meet Dr. Marthe Gautier
- Médecine/Sciences, Cinquantenaire de la trisomie 21
- France Culture, Marthe Gautier, découvreuse de la Trisomie 21
- INSERM, Marthe Gautier
- Goodreads, Jérôme Lejeune: Le Père De La Génétique Moderne
- Cercle Généalogique de la Brie, Montenils : Marthe Gautier à l’honneur
- Institut national de l’audiovisuel, Marthe Gautier : « Je suis toujours et je reste dégoûtée »
- Le Monde, Trisomie 21 : le chromosome de la discorde
- Le Monde, La vieille dame et les huissiers de la Fondation Lejeune
- University of Southamption, Emeritus Professor Patricia Jacobs OBE, FRS, FRS(Edin), BSc(hons), DSc