Human geneticist Regina Betz of University Hospital Bonn in Germany and her team had just linked three genes to a rare disorder with eye-catching symptoms: silvery, spangly, spun glass hair that just will not lie flat. Called uncombable hair syndrome, patients can have dry, shiny strands that stand away from the scalp like a cloud of dandelion fluff. Only about 100 cases had ever been reported.
But after the study, which looked at 18 cases, people from all over the world reached out. “They said, ‘Oh, I have a child like this’ or, ‘Oh, I looked exactly like that as a child,’” says study coauthor Buket Basmanav, a geneticist also at University Hospital Bonn. “Regina said, ‘Send us your samples.’”
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