Marthe Gautier, 96, Dies; Had Key Role in Down Syndrome Breakthrough

Marthe Gautier, a French geneticist who played a pivotal role in the groundbreaking discovery of the chromosomal cause of Down syndrome, has passed away at the age of 96. Her remarkable contribution to the field of genetics was marred by a long-standing dispute with a male colleague who initially took credit for her work.In the early 1950s, Gautier, along with her colleague Jérôme Lejeune, was working at the University of Paris when they made the revolutionary finding that an extra chromosome 21 was the underlying cause of Down syndrome. This fundamental discovery not only shed light on the genetic basis of the condition but also paved the way for significant advances in the field of genetics and prenatal testing.Despite her crucial role in the discovery, Gautier faced an uphill battle for recognition. Lejeune, who was the senior researcher at the time, initially presented the findings as his own, relegating Gautier to a footnote in the publication. This oversight not only denied Gautier the credit she deserved but also overshadowed her contributions to the scientific community.Gautier's perseverance and determination ultimately led to her receiving recognition for her work. In the years that followed, she continued to make significant contributions to the field of genetics, earning her a reputation as a trailblazing scientist.Gautier's legacy extends beyond her scientific achievements. Her story serves as a testament to the challenges faced by women in science, who often have to fight for recognition and equality in a male-dominated field. Her passing is a loss to the scientific community, but her groundbreaking work will continue to inspire future generations of scientists and researchers.