Pharyngula

tri21

I had known that Jérôme Lejeune was the fellow who had discovered that Down Syndrome was caused by trisomy of chromosome 21, but it seems there were many other things about him I had not known — he was just a name. But there were a few things that set me aback.

Lejeune became not just a renowned researcher but the darling of the French Catholic right-to-life movement.  You can read long flattering Wikipedia biographies in both French and English. He was showered with awards and given a prestigious Chair of Human Genetics at the Paris School of Medicine, bypassing the usual competition.

When prenatal diagnosis became available Lejeune campaigned against it on religious grounds. He became a friend of Pope John Paul II and was appointed President of the Pontifical Academy for Life (Wikipedia), the Catholic think-tank for medical ethics.  He died in 1994.  The Fondation Jerome-Lejeune was established in his honour; there’s an American branch too.  This foundation provides funds for research into Down syndrome and support for families and patients, but only in the context of very strong opposition to abortion.  They’re also campaigning to have Lejeune beatified by the Vatican.

Uh, OK. Ick. One of those Catholics. I am entertained by the thought that if you do good science and happen to be Catholic, though, the church will try to get you beatified.

But then I learned something that really kind of pisses me off. He’s not the guy who discovered trisomy 21. He’s the guy who stole credit for discovering trisomy 21 (sleazy behavior like that may have just fast-tracked him to Catholic sainthood now).

The real discoverer was a woman, Marthe Gautier, who had done all the cell work that led to the identification of the chromosome abnormalities. She got a bit of space and some rudimentary equipment, and cultured cells using serum derived from her own blood. Man, we’ve got it easy nowadays.

For this work she was given a disused laboratory with a fridge, a centrifuge, and a poor quality microscope, but no funding. And of course she still had her other responsibilities. But she was keen and resourceful, so she took out a personal loan to buy glassware, kept a live cockerel as a source of serum, and used her own blood when she needed human serum.

So she set up normal human cells, prepped them for the chromosome squashes, grew Down syndrome cells and did likewise, and was held up by her primitive gear at that point…when Jérôme Lejeune showed up and whisked all of her data away to get it photographed. And then went off to a conference where he announced that he had discovered the cause of Down syndrome, and then published the story with Gautier’s name as a middle author — a paper she did not get to see and knew nothing about until the day before publication.

Lejeune is dead now, but the sleaze continues in his name. There was to be an award ceremony for Gautier — she’s 88 now — at the French Federation of Human Genetics’ (FFGH) seventh biennial congress on human and medical genetics in Bordeaux. Guess who is trying to intimidate the attendees by having a bailiff sent to film the proceedings? Fondation Jérôme Lejeune, of course, because Gautier was intending to give a speech that would affect the memory of Pr. Jérôme Lejeune. I think his foundation is doing a fine job of that already.

It’s very nice that Lejeune at least gave credit to Gautier in the authorship of the original paper, but if you browse the Foundation web page, you discover that (in the creepy mix of pro-Catholic and anti-abortion sentiment mingled with worthy appeals for care and tolerance for Down syndrome people), they repeatedly state that Lejeune is the “discoverer of Down syndrome” — so much so that it’s clear that they attach a great deal of importance on the identity of the discoverer. They don’t seem to attach much importance to the fact that he appropriated the hard work of a woman laboring away under primitive conditions, and do think it very important that she be denied recognition. Lejeune also thought the discovery was worthy of a Nobel prize (no, he didn’t get one), so…Very Big Deal. But not big enough to demand honesty and integrity in its appreciation of who did the work.

Comments

  1. #2 Believeitornot
    March 3, 2014

    The recent initiative (sending of 2 bailiffs to a conference) taken by the Lejeune Foundation is inacceptable and it is obvious that Marthe Gautier played an eminent role in the discovery of the etiology of Down syndrome. Though I would suggest you to be more cautious in the reporting of the story .
    please keep in mind the folowing, exposed by Richard McManus in « Photographer, Prisoner, Polyglot NIDDK’s Tjio Ends Distinguished Scientific Career » : « In his excitement, Tjio shared his results with his Swedish colleagues. « Levan was on vacation, so I showed it to them. » Their unanimous verdict was that Tjio should publish his findings immediately, and with himself as first author, which was contrary to tradition in European universities that held that the lab’s chief always got top credit on work issuing from his lab…..I wouldn’t allow him to be first author, » Tjio recalls. « I said if you want to be the author, you do the work. » Tjio went so far as to threaten to throw all of his work away, daring Levan to reproduce his results…..Since Levan is still alive, in his nineties, they are reluctant to stir the ashes of an old controversy » http://nihrecord.od.nih.gov/newsletters/02_11_97/story01.htm
    Turpin’s inheritors ( Turpin was the lab’s chief ) also drew an action against the Foundation in 1996.
    My understanding – that further historical inquiry should examine- would be that for research strategy and owing to the then prevailing habits, the name of Lejeune, who had some academic weight in CNRS and the desire to pursue research in the field of genetics ( a desire that Gautier did not have : she was more prone to clinical work then ) was put forward by Turpin. Controversies that occured afterwards linked to abortion and prenatal screening serve as filters to the historical facts. Just beware of that.

  2. #3 David Marjanović
    Museum für Naturkunde, Berlin
    March 3, 2014

    tradition in European universities that held that the lab’s chief always got top credit on work issuing from his lab

    In biology, European or not, that’s the last author – exactly as you say about Turpin. The first author did the biggest part of the work and is therefore often a grad student; the following authors did fewer and fewer of the work, and the last author may not have contributed anything except perhaps the basic idea, but provided the lab space and/or the funding.

    Therefore, last author is a coveted position. There are papers with two last authors, just like how there are papers with two first, three first, or two second authors; and hiring committees expect that as your career advances, you shift from being first author on most of your publications to being last author.

    BTW, the paper misspells Gautier’s name as “Gauthier” (a name that exists and is pronounced the same, but isn’t hers). If that’s not evidence that she didn’t know about the manuscript while Lejeune was writing it, I don’t know what is.

  3. […] Meyers talks about Marthe Gautier, yet another woman whose work was stolen and credited to a […]

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