Today’s is Marthe Gautier 91st birthday

On September 10, 1925 the french medical doctor and researcher Marthe Gautier was born. She founded the first laboratory for cell culture in France and discovered in 1958 that trisomy 21 is the cause of Down Syndrome.

In 1955 Gautier defended her thesis in pediatric cardiology under the direction of Robert Debré, in charge of pediatrics in France at the time.  He offered her a scholarship for one year at Harvard University where she acquired knowledge in pediatric cardiology .
After a year in Boston, Gautier returned to Paris and accepted a position at the Trousseau Hospital, in Raymond Turpin’s team.

Marthe Gautier wrote about her studies and research in an article published initially in Médecine/Sciences, which was later translated from the French by Cardiff University Centre for Lifelong Learning and Prof Peter S. Harper.

Gautier was able to discover in 1958 that children with Down syndrome have 47 chromosomes, with an extra copy of chromosomes 21.

Attribution of the discovery

Jérôme Lejeune, a member of Prof Turpin’s team, received from Marthe Gautier the slides to take the pictures that can confirm this discovery.

Later, Jérôme Lejeune, not only he started presenting himself as the discoverer of trisomy 21, but Prof Turpin gave him the the first author position on the main publication describing the discovery of trisomy 21, which was published in the CRAS (Franch Academy of Sciences reports). The name of Marthe Gautier only appears second !

Marthe Gautier is considered as one of the “women denied scientific glory“.

The disagreement issue over the discovery of Trisomy 21 erupted after a disagreement in 2014 at the French Federation of Human Genetics (FFGH). Marthe Gautier (National Order of the French Legion of Honour) 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.

The Ethics and Integrity Platform published in August, 21st, 2015, an article describing this issue.  Nature and Science have also discussed this Down’s syndrome discovery dispute.

In 2014, The Ethics Committee of the French Institute of Health and Medical Research (INSERM) has published a report about the issue of Trisomy 21.

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 (90-year old) 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.

Lejeune Foundation responded to this report, but on the 3rd September 2015, Seraya Maouche, who is writing a book about Marthe Gautier, published a detailed analysis of the issue, documents, reports, and the replies of Lejeune Foundation. She provided evidence of errors and inaccurate analysis in Lejeune Foundation’s response to the INSERM’s Ethics Committee.

Marthe Gautier at an exhibition of the Art and Exhibition Hall of the Federal Republic of Germany

In collaboration with the German research project TOUCHDOWN 21, the Art and Exhibition Hall of the Federal Republic of Germany (Bundeskunsthalle) will organize an exhibition about Down syndrome which focus on the work of Dr Marthe Gautier.

This exhibition, entitled “TOUCHDOWN – an exhibition with and about people with Down Syndrome” (in German: Touchdown Eine Ausstellung mit und über Menschen mit Down-Syndrom), will be held from 29 October 2016 to 12 March 2017.

We wish Marthe Gautier a very happy birthday !




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