Bone Disease Gene Finally Found

摘要

Before dozens of people in an auditorium at the University of Pennsylvania, announcing the biggest discovery of his career, Fred Kaplan fought back tears. His 15-year search for the gene behind a rare and horrifying bone disease had ended, fingering a single base as the culprit and offering hope to the small number of people afflicted with the often fatal illness. Three days before, Kaplan, an orthopedic surgeon, had privately shared the news that the gene search was over with some members of the International Fibro-dysplasia Ossificans Progressiva (FOP) Association. "We were all crying," he says.