Marthe Gautier

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Marthe Gautier (* 10. September 1925 in Montenils ) is a French pediatrician specializing in cardio - Pediatrics . She was instrumental in discovering the cause of Down syndrome in collaboration with Raymond Turpin and Jérôme Lejeune . Jérôme Lejeune is named as the first author in the article announcing the discovery. Marthe Gautier challenged this order and accused Jérôme Lejeune of having wrongly ascribed the discovery to himself. He kept silent that it was she who had worked out the laboratory results.

biography

parents house

Marthe Gautier was born on September 10, 1925 in Montenils, Seine-et-Marne , the fifth of seven children.

education

Studied in Paris

Marthe's mother wanted her daughters to study. Marthe Gautier herself discovered her calling for paediatrics early on. In 1942 she joined her sister Paulette, who was about to complete her medical degree in Paris. Her sister's death in 1944 robbed her of her mentor, but she continued her studies and applied for the admission competition for the boarding school of the Paris clinics. She won a university place and studied paediatrics for four years. In 1955 she did her doctorate with Robert Debré . Her thesis is a clinical and anatomical - pathological study of rheumatic fever , which by streptococcus caused.

Robert Debré, who at the time had overall responsibility for pediatrics in France, suggested her for a scholarship at Harvard University . She should deepen her knowledge of pediatric cardiology there. His aim was that she would contribute to it

He also planned to set up a center for diagnosis and surgery of congenital heart defects in newborns and infants.

One year in Boston

In September 1955 Marthe Gautier set out for Boston , accompanied by the Fulbright scholars Jean Alcardi and Jacques Couvreur. The three were the first students at the Paris Clinics to receive a scholarship to the United States. At Harvard, Marthe Gauthier continued her studies of congenital heart defects with Alexander Nadas. In addition, she familiarized herself with working with cell cultures through studies on fibroblasts . She took a half-time position as a technician in a cell culture laboratory. Starting from aortic fragments, she obtained cultures of fibroblasts, on which she examined the effects of cholesterol in children and adults.

Back in Paris

After the year in Boston, she expected a job in pediatric cardiology at the Hôpital Bicêtre . In her absence, however, the position was filled with a colleague. So she had to find another job. She found this at the Hôpital Trousseau with Raymond Turpin. She took up her work there in September 1956 and from now on devoted herself to the subject Raymond Turpin and Jérôme Lejeune were researching: Down's syndrome. Even then, Raymond Turpin advocated the hypothesis that it was caused by an abnormality in the chromosomes . At that time there was no cell culture laboratory in France, and the number of human chromosomes was estimated at 48 instead of the now known 46.

Discovery of the chromosomal abnormality as the cause of Down syndrome

The laboratory experiment

Joe Hin Tjio , researcher at the Institute for Genetics at Lund University , published his discovery in 1956, together with Albert Levan , his head of laboratory, that human cells contain 46 chromosomes. When Raymond Turpin returned from the Copenhagen Congress of Human Genetics , he talked about it in his working groups. He suggested growing cell cultures to count the number of chromosomes in Down syndrome patients. Thanks to the experience she had gained in the United States, Marthe was able to propose to Gautier to take on this role. Raymond Turpin accepted, and she created the first in vitro cell culture laboratory in France.

The neighboring surgical department provided their connective tissue that had been removed from children during planned operations. She cultured them and, with the help of two technicians, managed to make the fragments grow and cells to proliferate . To count the chromosomes, she used the method with which Joe Hin Tijo had already achieved success in a modified form:

«Ensuite, j'utilise - en l'adaptant - le principe du milieu hypotonique qui avait permis les results de Tjio et Levan, mais à base de sérum pour ne pas rompre the membrane cellulaire, enfin en laissant sécher les lames avant de les colorer . Jamais de squash , préconisé par certains. Ainsi, mes plus belles preparations sont en prométaphase, sans rupture de la membrane cellulaire, ce qui permet un cipher exact et de très beaux chromosomes allongés, faciles à apparier, non cassés. »

“Then I applied - as a modification - the principle of the hypotonic milieu with which Tijo and Levan had come to their results, but on the basis of serum so as not to tear the cell membrane . Then I let the slides dry before staining them. No squeezing, as recommended by some. So my most beautiful preparations are in the prometa phase , without tearing the cell membrane, which enables an exact count with very beautiful elongated chromosomes, easy to compare and without breaks. "

- Marthe Gautier

Using this method, she counted an extra chromosome in a boy with Down syndrome. In 1958, for the first time, it was proven that Down's syndrome was related to an abnormality in the set of chromosomes.

Publication of the results

Since the laboratory at the Hôpital Trousseau did not have a microscope with which one could take photographs of the slides, Marthe Gautier entrusted her results to Jérôme Lejeune. He suggested that she take pictures in another, better equipped laboratory. In August 1958, photos were available showing an excess chromosome in a patient with Down syndrome. Lejeune announced the discovery of trisomy 21 in October 1958 at a seminar at McGill University, Canada . In January 1959, after investigating further cases, the laboratory published the analysis of the slides in the Comptes rendus de l'Académie des sciences. The authors named are, in that order, Jérôme Lejeune, "Marthe Gauthier" (sic, with an incorrectly written family name) and Raymond Turpin. The aim of the rapid publication was to anticipate Anglo-Saxon researchers, namely Patricia Jacobs , who was researching similar topics.

Raymond Turpin's team discovered the first chromosomal translocation and the first deletion . Marthe Gautier appears as a co-author in the related publications.

Attribution of the discovery

In 1960, the term trisomy 21 was invented in Denver for Down syndrome . The discovery that it was a chromosomal abnormality was attributed to Jérome Lejeune. Marthe Gautier wrote:

«Je suis blessée et soupçonne des manipulations, j'ai le sentiment d'être la‹ découvreuse oubliée ›»

"I am injured and suspect manipulation, I have the feeling of being the 'forgotten explorer'"

- Marthe Gauthier

She had been forced out and Jérôme Lejeune wrongly claimed the discovery:

«Trop jeune, je ne connais pas les règles du jeu. Tenue à l'écart, je ne sais pourquoi l'on ne publie pas tout de suite. Je n'ai compris que plus tard que JL, inquiet et n'ayant pas l'expérience des cultures, craignait un artéfact qui aurait brisé sa carrière - jusque-là assez peu brillante - mais qui, si les résultats étaient avérés, s' annonçait soudain géniale. (...) Désormais, JL va se présenter comme le découvreur de la trisomie 21. »

“Young as I was, I didn't know the rules of the game. I was pushed out, couldn't understand why they didn't publish immediately. It was only later that I understood that JL, worried and without experience with (tissue) cultures, feared an artifact that would have destroyed his - until then not very glamorous - career. But if the results were verified, he could instantly portray himself as a genius. (...) From now on, JL presented himself as the discoverer of trisomy 21. "

- Marthe Gauthier

Further career

Convinced that she had been betrayed, Marthe Gautier decided to give up her research on trisomy 21 and to concentrate on childhood cardiovascular diseases again. At the suggestion of Daniel Alagille , Director of the Hepatology Research Department at the Institut national de la santé et de la recherche médicale (INSERM), she founded the Département d'anatomo-pathologie des maladies hépatiques de l'enfant at the Hôpital du Kremlin-Bicêtre in 1966 and became its director. A year later she became Maître de recherche at INSERM, then director there. In addition, she was appointed as a member of the expert commission Métabolismes inorganiques, physiologie et pathologie hépatiques et digestives .

After her retirement Marthe Gautier devoted herself to painting and botany.

Younger development

On January 31, 2014 Marthe Gautier was supposed to give a lecture entitled Découverte de la trisomie 21 at the conference on medical genetics and human genetics in Bordeaux . For her work she was to receive the Grand Prix de la Société française de génétique humaine . Jérôme Lejeune's foundation and family obtained approval from the Tribunal de Grande Instance of Bordeaux to have their speech recorded by a court clerk. Thereupon, and after reading the manuscript of the speech, the organizers of the conference decided to cancel Marthe Gautier's lecture. Her prize, a medal with three ears of wheat, was presented to her in a separate ceremony without the scheduled speech taking place.

Ultimately, however, the Lejeune Foundation damaged its own reputation with this intervention.

In July 2014, the INSERM Ethics Committee published a statement on the international conventions on scientific publications. Regarding the affair surrounding the discovery of trisomy 21, the following is recorded:

«L'approche technique est une condition nécessaire à la découverte - rôle clé de Marthe Gautier; mais bien souvent il faut la prolonger pour en faire émerger la reconnaissance - contribution première de Raymond Turpin et par la suite de Jérôme Lejeune. La découverte de la trisomie n'ayant pu être faite sans les contributions essentielles de Raymond Turpin et Marthe Gautier il est regrettable que leurs noms n'aient pas été systématiquement associés à cette découverte tant dans la communication que dans l'attribution de divers honneurs. »

“The technical approach is a necessary prerequisite for the discovery - the crucial role of Marthe Gautier; but it often has to be expanded to show its importance - the contribution by Raymond Turpin and later by Jérôme Lejeune. Since the discovery of trisomy was not possible without the essential contributions of Raymond Turpin and Marthe Gautier, it is regrettable that their names have not been systematically associated with this discovery, either in communication or in the award of various honors. "

- Comité d'Ethique de l'Inserm

Honors

She initially refused the honor of being an officer of the Legion of Honor , conferred by decree of April 2014, but finally accepted it

«... par indignation à l'égard de l'impudence de la Fondation Lejeune. »

"... in outrage at the insolence of the Lejeune Foundation."

In August 2015, a plaque in her honor was unveiled in her hometown of Montenils.

By decree of November 2018, she was awarded the Ordre national du Mérite with the rank of commander.

Individual evidence

  1. ↑ Jerôme Lejeune, Marthe Gautier, Raymond Turpin: Les chromosomes humains en culture de tissus . In: Comptes rendus de l'Académie des sciences . January 26, 1959, p. 602-603 (French).
  2. ↑ Jerôme Lejeune, Raymond Turpin, Marthe Gautier: Mongolism; a chromosomal disease (trisomy) . In: Bull Acad Natl Med . tape 143 , no. 11-12 , 1959, PMID 13662687 (English).
  3. ↑ a b c d e f g h i Marthe Gautier: Cinquantenaire de la trisomie 21. Retour sur une découverte . In: Médecine / Sciences . tape 25 , no. 3 , March 2009, p. 311–315 (French, medecinesciences.org [PDF; accessed April 15, 2019]).
  4. ^ A b Marthe Gautier: La découvreuse oubliée de la trisomie 21. In: La Recherche. September 30, 2009, archived from the original on February 2, 2014 ; accessed on April 15, 2019 (French).
  5. ↑ Randy Engel: Randy Engel interview with Dr. Marthe Gautier, discoverer of trisomy 21. In: RenewAmerica. March 6, 2013, accessed April 15, 2019 .
  6. ↑ Montenils: Marthe Gautier à l'honneur. In: Cercle Généalogique de la Brie. Retrieved April 16, 2019 (French).
  7. ^ A b Yvette Sultan: Gauthier, Marthe [Seine-et-Marne, 1925] . In: Antoinette Fouque, Mireille Calle-Gruber, Béatrice Didier (eds.): Le Dictionnaire universel des créatrices . Belin, Paris 2014 (French, google.de [accessed April 16, 2019]).
  8. ^ A b c Joe Hin Tjio, Albert Levan: The chromosome number of man . In: Hereditas . tape 42 , 1956, pp. 1-6 .
  9. ^ Pearce Wright: Obituary: Joe Hin Tjio . In: The Guardian . December 11, 2001, ISSN  0261-3077 ( theguardian.com [accessed April 16, 2019]).
  10. ^ CJ Harrison, JD Rowley, H. Van den Berghe, A. Bernheim, M. Martineau: No chromosome arm unturned: in memory of Roland Berger 1934–2012 . In: Leukemia . tape 28 , February 5, 2014, ISSN  1476-5551 , p. 464–469 , doi : 10.1038 / leu.2013.340 ( nature.com [accessed April 16, 2019]).
  11. ^ A b Jean-Marie Le Méné: Découverte de la trisomie 21. In: francearchives.fr. Retrieved April 17, 2019 (French).
  12. ↑ Harold Kalter: Issues and Reviews in Teratology . Springer Science & Business Media, Berlin / Heidelberg / New York 2012, ISBN 978-1-4613-0521-7 .
  13. ^ Jérôme Lejeune, Marie Gauthier, Raymond Turpin: Les chromosomes humains en culture de tissus . In: Comptes Rendus Hebdomadaires des Séances de l'Académie des Sciences . No. 248 . Paris January 26, 1959, p. 1721-1722 .
  14. ^ Department for Anatomical Pathology of Hepatological Diseases in Children
  15. ↑ a b Marthe Gautier. In: INSERM. Retrieved April 17, 2019 (French).
  16. ^ Inorganic metabolisms , hepatological and digestive physiology and pathology
  17. ↑ Denis Sergent: Trisomy 21, polémique autour de la découverte de Jérôme Lejeune . February 10, 2014, ISSN  0242-6056 (French, la-croix.com [accessed April 17, 2019]).
  18. ↑ a b Nicolas Chevassus-au-Louis: Trisomy 21: le chromosome de la discorde . November 17, 2014, ISSN  1950-6244 , p. 7 (French, lemonde.fr [accessed April 18, 2019]).
  19. ↑ Comité d'Ethique de l'Inserm: Avis du Comité d'éthique de l'Inserm relatif à la saisine d'un collectif de chercheurs concernant la contribution de Marthe Gautier dans la découverte de la trisomie 21 . Paris September 2014, p. 3 (French, inserm.fr [PDF; accessed April 17, 2019]).
  20. ↑ Décret du 18 avril 2014 portant nomination . ( gouv.fr [accessed April 18, 2019]).
  21. ↑ Dimanche se tient le Festival. In: actu.fr. August 22, 2015, accessed April 18, 2019 (French).
  22. ↑ Décret du 15 November 2018 portant promotion et nomination . (French, gouv.fr [accessed April 18, 2019]).
personal data
SURNAME Gautier, Marthe
BRIEF DESCRIPTION French pediatrician and researcher of trisomy 21
DATE OF BIRTH September 10, 1925
PLACE OF BIRTH Montenils