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Marthe Gautier

Marthe Gautier
Born (1925-09-10) 10 September 1925 (age 92)
Nationality French
Alma mater Hôpitaux de Paris
Known for Role in the discovery of Down syndrome
Scientific career
Fields pediatric cardiology
Institutions Hôpitaux de Paris, Harvard, Hôpital Trousseau
Thesis  (1955)
Doctoral advisor Robert Debré

Marthe Gautier (born 10 September 1925) is a French medical doctor and researcher, best known for her role in discovering the link of diseases to chromosome abnormalities.

Marthe Gautier discovered a vocation for pediatrics at an early age. In 1942 she joined her sister Paulette who was about to complete her medical studies in Paris intending to become a pediatrician. She passed the entrance exam of the "Internat des hôpitaux de Paris" and spent the next four years as an intern gaining clinical experience in pediatrics.

In 1955 she submitted and defended her thesis in pediatric cardiology under the direction of Robert Debré. Her thesis focused on the study of clinical and anatomical pathology of fatal forms of rheumatic fever (rheumatic endocarditis) due to streptococcus infection.

Robert Debré, in charge of pediatrics in France at the time, offered Gautier a scholarship for one year at Harvard University in order to acquire knowledge in pediatric cardiology with two main objectives. The first was to eradicate rheumatic fever, using penicillin and the treatment of sometimes life-threatening cardiovascular disease with cortisone; the second was to create a department for diagnosis and surgery of congenital heart diseases for newborns and young children.

In September 1955, Gautier left for Boston. She was accompanied by Jean Alcardi and Jacques Couvreur, both Fulbright scholars, and the three became the first interns of the Hôpitaux de Paris to be awarded scholarships for the US. At Harvard, one of the tasks of her internship was to be trained as a laboratory technician working on cell culture. Besides the two objectives that had been set initially, Gautier was also working half-time as a technician in a laboratory for cell culture to obtain in-vitro cultures of fibroblast starting from aorta fragments.

After a year in Boston, Gautier returned to Paris. Meanwhile her job in the pediatric cardiology service at the Bicêtre Hospital in Paris had been given to a colleague during her absence. However, she learned that there was a position available at the Trousseau Hospital, in Raymond Turpin's team.

Turpin's research was focused on polymalformative syndromes, of which the most common is trisomy, characterized by intellectual disability and morphological abnormalities. At the time, Turpin favored the hypothesis of a chromosomal origin of trisomy but there was no laboratory for cell culture in France and the number of human chromosomes was estimated at 48, but without any certainty.


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