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The Boston Globe

Science

Boston Children’s Hospital DNA contest brings hope

In the Foye household in Pine Brook, N.J., a biomedical twist on an Advent calendar went up on the fireplace mantle in early October: a countdown to the long-awaited day they would find out what gene caused 11-year-old Adam Foye’s mysterious and rare muscle-weakening disease.

Each day, a different family member — mom, dad, Adam, grandma — pulled off a numbered sticky note, ticking off the days until a mid-October conference call. That day, the family got a precious answer, learning the fruits of a contest organized by Boston Children’s Hospital. Twenty-three teams of scientists from around the world had combed through the DNA blueprints of Adam and his parents, Sarah and Patrick, to try to learn why Adam tired so easily, needing a scooter to walk longer than a few blocks and requiring a ventilator to help him breathe at night.

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