Who Discovered the Cause of Down Syndrome ? Episode Two

In 1960 Marthe Gautier left the lab where she had discovered the genetic cause of Down syndrome, and went on to have a successful career as a pediatric cardiologist. For decades, she remained silent as her former colleague Jérôme Lejeune continued to take credit for this pioneering discovery, and history wrote her out of the story. Until 2009. On the 50th anniversary of the paper that announced the discovery of trisomy 21, she decided to set the record straight. The process of changing history did not always go smoothly. In 2014, at the age of 88, she was set to give a talk and receive a medal at a conference, but the event was canceled hours in advance, and she was given the medal privately the next day. Finally, toward the end of her life, Gautier got the recognition she deserved. Before she died in 2022, she was also decorated by the French government for her contributions to science.