Giants in History: Irene Ayako Uchida

Uncovering the link between X-rays and chromosomal abnormalities 

Irene Ayako Uchida (8 April 1917 - 30 July 2013)


Irene Ayako Uchida’s (8 April 1917 – 30 July 2013) strides to understand genetic diseases such as Down syndrome paved the way for early screening of chromosomal abnormalities in foetuses. Uchida discovered that pregnant women who had undergone abdominal X-rays had a higher chance of giving birth to babies with Down syndrome. Uchida also found out that the extra chromosome that causes Down syndrome could be inherited from either parent, not just the mother as previously thought. Besides uncovering the link between pregnancy, X-rays and chromosomal abnormalities, Uchida developed a test for the genetic disorder Edwards syndrome, the first diagnostic blood test in Canada to profile an infant’s chromosomes that kickstarted Canada’s first clinical program for cytogenetics – the study of chromosomes and how changes in their structure and number can cause disease. Early in her career, Uchida also developed one of the largest twin registries in North America and used it to research the genetic disorders of twins with heart disease. Driven by a desire to help people, Uchida believed that "Science is a rewarding and challenging career. Young people going into science must keep an open mind to all ideas in an effort to find every possible way to help people." 



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