Med School Briefs

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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