[02/26/2015: This article has been updated to include information about the controversy over the discovery of trisomy 21.]
Winning a prestigious science prize can be the capstone of an outstanding career. But one distinguished researcher, we recently learned, is a candidate for a major honor rarely bestowed on a scientist: canonization as a saint in the Roman Catholic Church.
Afterward, he reportedly told his wife, 'Today, I lost my Nobel Prize in medicine.'
Were French geneticist and physician Jérôme Lejeune to be so recognized, it would not be for his significant scientific accomplishments but for his position on an ethical issue that grew out of that work—a position he apparently believed damaged his standing in the scientific world and his chance of winning its most coveted prize. Whether this is true is difficult to judge, but fear of harming his scientific eminence did not dissuade Lejeune from expressing and acting on his convictions.
In 1959, 2 years after Joe Hin Tjio and Albert Levan of the University of Lund in Sweden established that human beings normally have 23 pairs of chromosomes, Lejeune, as first author, and co-authors Marthe Gautier and Raymond Turpin published the discovery that trisomy 21—the presence of an extra copy of chromosome 21—causes Down syndrome, a condition characterized by intellectual deficits, characteristic physical features, and often other health problems. Lejeune went on to become a professor of fundamental genetics in the medical faculty at the University of Paris and research director at France’s National Center for Scientific Research for 30 years. He identified several other chromosomal abnormalities associated with particular syndromes.
Among other honors, in 1969 Lejeune received the William Allan Memorial Award, the American Society of Human Genetics’s top prize, bestowed annually in recognition of “substantial and far-reaching scientific contributions to human genetics,” according to the society’s website. Lejeune was the first person to win “for accomplishments in human cytogenetics. The startling growth of this young discipline over the past decade is intimately association with [his] contributions,” the prize citation states.
It was a bitter irony for Lejeune, then, when the “young discipline” spawned by his research permitted the diagnosis of Down syndrome in utero, facilitating the termination of affected pregnancies. A devout Catholic who staunchly opposed abortion, Lejeune hoped that research into the causes of Down syndrome and other genetic disabilities could lead to improved treatment and even cures. He was active in treating Down syndrome patients, counseling their families, and advocating against abortion. In 1994, Pope John Paul II appointed him founding president of the Pontifical Academy for Life.
Lejeune’s views were well known in the scientific world. At the William Allan Memorial Award ceremony, instead of presenting the customary lecture on research, Lejeune gave a talk called “On the Nature of Men,” during which he noted that “geneticists have not broken the secret of the human condition, and … scientific arguments are of little help in ethical issues.” He ended with an impassioned rejection of genetics as a basis for terminating pregnancies. Afterward, he reportedly told his wife, “Today, I lost my Nobel Prize in medicine.” For whatever reason, Lejeune, who died in 1994, never got the call from Stockholm.
In 2007, the Roman Catholic Archdiocese of Paris undertook the first step in the process of canonization. It completed that stage in 2012, and Lejeune’s cause moved to Rome. Now the Vatican will determine whether the next steps toward canonization are warranted. It has been suggested that he could eventually become the patron saint of people with Down syndrome.
In recent years, controversy has arisen over who actually made the discovery long credited to Lejeune. At the 50th anniversary of the paper announcing the discovery, second author Gautier, a French physician, published an article in Human Genetics stating that she, not Lejeune, made the first observation of the extra chromosome. In the article, she writes that she did not have equipment capable of reliably documenting the discovery, so she “entrusted the slides to [Lejuene], who had the photos taken but did not show them to me; they were, he said, with [his] Chief and therefore under lock and key.” Eventually, Lejuene began “presenting himself as the discoverer of trisomy 21.”
“I did not have enough experience or authority in this medical world, whose mechanisms I did not yet understand, to deal with it,” Gautier writes. “I was too young to know the rules of the game. … I suspected political manoeuvring, and I was not wrong.”
“I felt cheated in every respect,” Gautier continues. “However, in the history of ‘discoveries’, many others have also gone unnoticed, like Johann Friedrich Miescher of Basle or Rosalind Franklin of Great Britain, and that in the field of DNA alone.” Franklin, of course, was the British researcher who took the famous “Photograph 51” that gave James Watson and Francis Crick crucial information on which they based their model of the double-helix structure of DNA. Franklin died before the pair, plus Maurice Wilkins, won the Nobel Prize in physiology or medicine in 1962. Watson disparaged Franklin in his best-selling book, The Double Helix, but now admits that had she lived, she should have shared the prize, which cannot be awarded posthumously.
In September 2014, the ethics committee of the French Institute of Health and Medical Research in Paris declared that the discovery of trisomy 21 couldn't have been made without “the essential contributions” of Gautier and Turpin, calling it “regrettable that their names were not systematically associated with this discovery.” The committee took the opportunity to reiterate the current international rules for authorship. That same month, Gautier received a high honor from the French government, “officier dans l'Ordre de la Légion d'Honneur.” Supporters of Lejeune dispute Gautier’s claims.