Discovery of Trisomy 21 – Marthe Gautier vs. Lejeune Foundation – A New Report Published by the Ethics Committee of INSERM

The Ethics Committee of the French Institute of Health and Medical Research (INSERM) has published a report about the issue of Trisomy 21 (also known as the disagreement over the discovery of the cause of Down’s syndrome).

After receiving a referral from a group of researchers, the INSERM’s Ethics Committee headed by Prof Hervé Chneiweiss issued, on September 14th 2014, an Opinion explaining the role of Marthe Gautier (89-year old, French pediatric cardiologist and scientist) in the discovery of Trisomy 21.

“The discovery of trisomy could not be made without the essential contributions of Raymond Turpin and Marthe Gautier. It is regrettable that their names were not consistently associated with this discovery in both communication and the attribution of various honors.” – The INSERM’s Ethics Committee

Gautier
The disagreement issue over the discovery of Trisomy 21 erupted again after a disagreement this year at the French Federation of Human Genetics (FFGH). Marthe Gautier (National Order of the French Legion of Honor) was invited on 31th of January 2014 to the 7th Human and Medical Genetics Congress in Bordeaux to receive an award for her contribution to the discovery of Trisomy 21.

Lejeune Foundation (a Down syndrome support organization based in Paris), that attributes this discovery to Jérôme Lejeune (who passed away in 1994), has sent a bailiff (two according to Science) to FFGH in order to record the award ceremony and Gautier’s talk. The organizers decided to call off at the last minute this ceremony.

“Gautier’s talk was canceled just hours in advance, and she received the medal a day later in a small, private ceremony” – Science Feb. 14th 2014 Vol. 343

Elisabeth Pain added :

“After calling off Gautier’s talk and the award ceremony, FFGH issued a statement saying it would have been “unacceptable” to hold the ceremony under the threat of a legal suit. But the federation also said it “bitterly regretted” the cancellation and condemned the use of legal power to put pressure on a scientific meeting” – Science Feb. 14th 2014 Vol. 343

Marthe Gautier accepted the decision of FFGH and wrote in an e-mail to Science that :

“she felt unprepared to deal with what she calls “an aggression.” “To talk under the pressure of justice is not tolerable for me or anyone else.” – Science Feb. 14th 2014 Vol. 343

Earlier this year, Nature News Blog published an article entitled “Down’s syndrome discovery dispute resurfaces in France”, in which Barbara Casassus discussed the disagreement over the discovery of the cause of Down’s syndrome.

“A disagreement over the discovery of the cause of Down’s syndrome has resurfaced in France more than 50 years after the findings were published.” – Nature News – 11 Feb. 2014

Who really discovered Trisomy 21?

We recommend to read the article “Who really discovered trisomy 21? (righting an old wrong) that was published by Rosie Redfield on February 06, 2014 on RRResearch Blog.

The key paper reporting the finding of Trisomy 21 was published in 1959 by the French Academy of Sciences [1]. Lejeune was listed as first author on this publication. Marthe Gautier was listed in the second position, and Raymond Turpin was listed as senior author. Turpin was the director of research group at Trousseau Hospital in Paris where Gautier and Lejeune performed their research.

In 2009, Marthe Gautier and Peter S. Harper published, in the Journal of Human Genetics, “Fiftieth anniversary of trisomy 21: returning to a discovery” [2], in which Gautier gave interesting historical details about this discovery. She also published in MEDECINE/SCIENCES a similar article in French [3].

In both articles, Gautier published a copy of a letter she received from Lejeune when he was in USA (Fig. 2). In this letter, Lejeune refers to the work done by Gautier who showed the existence of 47 chromosomes.

letter
Gautier said in this article:

“The additional chromosome was small, and the laboratory did not have a photomicroscope that would confirm its presence and establish the karyotype. I entrusted the slides to J.L. [Jérome Lejeune], who had the photos taken but did not show them to me; they were, he said, with the Chief and therefore under lock and key. The chromosome appeared to be number 21, but it was not christened as such until the Denver Conference in 1960.7 I am aware of what was said on the side, but I did not have enough experience or authority in this medical world, whose mechanisms I did not yet understand, to deal with it. I was too young to know the rules of the game. Kept apart, I had no idea why they did not publish earlier. Only later did I understand that J.L., anxious and inexperienced with cultures, feared an artefact that might wreck his career, which up until then was nothing special, but would have suddenly become glittering had the results been revealed. I suspected political manoeuvring, and I was not wrong. On the other hand, I had no personal intention of ‘‘exploiting’’ this additional chromosome, my professional life was then working towards the clinic.”

In 2005, Marie-Hélène Couturier-Turpin (Prof Raymond Turpin’s daughter), published in “La Revue du Practicien” her testimony and interesting details about the discovery of trisomy 21 [4].

turpin
Prof Turpin’s service of pediatry at Trousseau Hospital 
Marie-Hélène Couturier-Turpin attributed the discovery of trisomy 21 to Jérome Lejeune, Marthe Gautier and to her father, Prof Raymond Turpin. She wrote:

“In 1958, Jérôme Lejeune, Marthe Gautier, and and himself [Raymond Turpin] discovered an extra chromosome in a karyotype of patients, the first chromosomal aberration identified.”

For French Readers, Sylvestre Huet from the French Newspaper Libération has published today an article in which he discussed the issue of Trisomy 21 as well as the report published by the Ethics Committee of INSERM. Links to further related articles in English or French are provided below.

The Ethics Committee of INSERM has also issued a series of recommendations in order to protect research integrity and ethical conduct of research.

Interesting Feedbacks

We received a number of very interesting feedbacks, including from:

a- The French Academy of Sciences

The French Academy of Sciences kindly confirmed that they never received a request from Dr Gautier to correct her name on the key paper reporting the finding of Trisomy 21 that was published in 1959 by the French Academy of Sciences.

After a phone call with Prof Jean-Yves Chapron from the Academy, we prepared a letter that Dr Marthe Gautier signed and sent to the French Academy of Sciences on 20 July 2015.

b- Dr Marie-Hélène Couturier (Prof Raymond Turpin’s daughter)

In an email we received on October 20th, 2014, Dr Marie-Hélène Couturier kindly commented our article about the issue of Trisomy 21 that she found “very well documented”. She said that the report by the Ethics Committee of the French Institute of Health and Medical Research (INSERM) is very objective to consider regrettable that the names of Raymond Turpin and Marthe Gautier were not consistently associated with this discovery.

“J’ai lu avec attention votre article qui me paraît très bien documenté. Vous relatez l’avis du comité d’éthique de l’INSERM qui, de façon très objective, regrette que les noms de Raymond Turpin et de Marthe Gautier n’aient pas été constamment associés à la découverte de la trisomie 21, vu les contributions essentielles qu’ils ont eues l’un et l’autre.” – Dr Marie-Hélène Couturier –

Which can be translated to:

“I read with interest your article which seems to me very well documented. You present the opinion of the ethics committee of INSERM, which very objectively, regrets that the names of Raymond Turpin and Marthe Gautier were not consistently associated with the discovery of trisomy 21, given the essential contributions they both have made to this work”.

c- Other feedbacks

Other feedbacks and interesting discussions are available on the blog”Redaction Médicale et Scientifique” which is maintained by Prof Hervé Maisonneuve.

Reaction of Lejeune Foundation

(This section has been added on 29 June 2015)

After publication by the INSERM’s Ethics Committee of a report explaining the role of Marthe Gautier in the discovery of Trisomy 21, Lejeune Foundation published a report , entitled “controversy about the discovery of trisomy 21 – elements of response”.

Acknowledgments

The author would like to thank all the scientists who joined the discussions on the Blog “Redaction Médicale et Scientifique” (Prof Hervé Maisonneuve) and posted several interesting references that were added to this page.

References

Related Newspaper/Scientific Blogs articles in French

Related Newspaper /Scientific Blogs articles in English

Wikipedia resources

Interviews / Videos

A translation into French is available here

 


[1] Trisomy image source: http://www.ds-health.com/trisomy.htm
[2] Photo source : Le Monde.
[3] Copy of the Letter of Jérome Lejeune was extracted from the article “Fiftieth anniversary of trisomy 21: returning to a discovery”, published in Human Genetics.

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