Who Discovered the Cause of Down Syndrome? Episode One

In the mid-1950s Marthe Gautier, a young French doctor and cytogenetics researcher, led a cutting-edge experiment to investigate the cause of Down syndrome. She painstakingly cultured cells in a ramshackle lab until one day she discovered an extra chromosome in the cells of patients with Down syndrome. This proved beyond a doubt that Down syndrome is genetic.

In this first episode of our two-part series about Gautier, she sees her discovery appropriated by a male colleague as he rushes to publish her findings. Jérôme Lejeune is listed as the lead author of the discovery even though Gautier did the work. Her name is listed second on this groundbreaking paper, published in 1959. And to add insult to injury, it is misspelled. It will take decades for Gautier to speak out.