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Gene mutation for genetic mystery identified

A gene associated with spinal-muscular atrophy linked to the X chromosome, a rare pediatric disease, was recently identified by Dr. Lisa Baumbach-Reardon of the University of Miami Miller School of Medicine in conjunction with the Technical University of Munich, Germany. Spinal-muscular atrophy is a neurodegenerative disorder that results in severely weakened muscles in male infants. The majority of infected individuals do not survive two years after birth. Baumbach-Reardon and her team of researchers identified the responsible genetic mutation on gene UBE1 of the X chromosome in 2006, and presenting it last week provided a long-awaited answer to those who lost children to the disorder. Working with genetic information from an afflicted family, researchers hope to obtain grants for mouse and yeast testing and find a cure.

January 24, 2008

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The Miami Hurricane is the student newspaper of the University of Miami in Coral Gables, Fla. The newspaper is edited and produced by undergraduate students at UM and is published weekly in print on Tuesdays during the regular academic year.