Seattle/LocalHealthGuide has a story on the intercontinental team who have discovered the genetic link to a form of muscular dystrophy. Their paper, published in Science, details how expression of the DUX4 homeobox gene by an otherwise harmless stretch of "junk DNA" results in facioscapulohumeral muscular dystrophy (FSHD).
They're hypothesizing that the DUX4 protein is at some level toxic to muscle cell development, which results in FSHD's "weakness and wasting" of muscles in the face, shoulders, and upper arms--which can later reach the abdomen and hips. Eventually, it could be possible to medically disrupt the protein-encoding process--but for now identifying the protein in a lab's controlled conditions and in the body are two very different things.
(read more about the work at the Hutch and our researchers)