Elaine H. Zackai, MD

Director, Section of Clinical Genetics
Letitia B. and Alice Scott Endowed Chair in Human Genetics and Molecular Biology

Zackai’s stellar track record of training the next generation of clinical geneticists was recognized when she was honored with the American Society of Human Genetics’ first-ever Mentorship Award. In her 45 years at Children’s Hospital, while the field of genetics advanced at breakneck speed, Zackai made sure that the 91 fellows she mentored learned not only the science but also the human side of treating children with genetic conditions and their families. Zackai calls the field “stimulating, interesting, challenging and gratifying,” especially when she helps parents understand their child’s condition, even when it’s a difficult diagnosis.

Breakthrough moment

“We had a family with two children who had an extra 22nd chromosome. We looked at the parents’ chromosomes, and initially they looked normal. Then Dr. Beverly Emanuel, the director of the lab, and I saw that one of the mother’s 22s was a little smaller. It ended up that the mother had an exchange of material from the bottoms of her 22nd chromosome and her 11th chromosome — a translocation, which led to the extra chromosome in her children. It was the first time that had been seen, and it opened up a whole new area of study. It was definitely an aha moment.”

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