The Disease That Turned Us Into Genetic-Information Junkies – Facts So Romantic

For many people, 1969 felt like a year when technology could solve all of our problems, a sentiment that reached a crescendo with the Apollo 11 moon landing. But back on Earth, Michael Kaback was a medical resident at Johns Hopkins Medical Center, and he was frustrated. Kaback had helped some of his colleagues to diagnose two young children with some alarming symptoms: They started having seizures, stopped developing mentally, and were growing weaker, letting their limbs flop from side to side. Since the parents of both children were Ashkenazi Jews, Kaback suspected that the cause of the disease might be genetic. So he checked the children’s blood samples for a recently discovered enzyme called hex A—without it, cells in the central nervous system can’t break down an essential fatty substance, causing the cells to deteriorate and die over time. Both children were missing the enzyme, which confirmed Kaback’s fear: They had Tay–Sachs disease. They would die before they turned 5 years old, and there was nothing anyone could do.

From these two families, Kaback got a sense of how devastating this disease can be for families. He also realized that he had the technology and knowledge…

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