ニューヨーク・タイムズのインスタグラム(nytimes) - 4月24日 04時16分

Yuna Lee was 2 when her mother received the doctor’s email. The little girl was plagued with body-rattling seizures and inconsolable crying. She couldn’t speak, walk or stand. Brain scans, genetic tests and neurological exams hadn’t provided any answers. But the email suggested that Yuna might have a mutation on a gene called FOXG1. “I knew,” Soo-Kyung Lee said, “what that gene was.” Almost no one else in the world would have had any idea. But Soo-Kyung is a specialist in the genetics of the brain, and she’d spent years working with the FOX family of genes. “I knew how critical FOXG1 is for brain development,” she said. She also knew harmful FOXG1 mutations are exceedingly rare and usually not inherited. Suddenly, the 42-year-old and her husband Jae Lee, 57, also a genetics specialist, had to transform from dispassionate scientists into parents. “Our ultimate goal is to find a better treatment for FOXG1 syndrome patients,” Soo-Kyung said. But her day-to-day goal is helping Yuna, 8, make slivers of developmental progress. She rarely used to mention Yuna at work, but recently began thanking her during presentations. “I was afraid every day that she might not be with me the next day,” Soo-Kyung said, voice breaking. “But she’s done amazing things that we wouldn’t dare to dream.” @fremson took this photo of Yuna at school. Visit the link in our profile to read the full story.

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