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Two years ago, Yiwei Shi was searching desperately for someone to build a drug for her newborn son, Leo. Leo was born with a very small head, a symptom of many severe diseases. After a seizure at two months, doctors sequenced his genome and found a single misspelling in a gene called TNPO2.
Little was known about the gene, except that it was involved in neurodevelopment. The most recent paper the family found was in fruit flies. Only one other boy in the world had been identified with Leo’s mutation. Shi contacted the family.
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“And we found out from the family that at about age 3, the other boy stopped kind of making progress developmentally,” Shi said. “We were like, time is of the essence.”
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