Researchers Publish Genetic Findings on Rare Pediatric Disease

A gene associated with a deadly disease that only affects infant boys (X-linked spinal-muscular atrophy) has been discovered by researchers at the Miller School and the Technical University of Munich in Germany.

Spinal-muscular atrophy (SMA) is a pediatric neurodegenerative disorder that results in severely weakened muscles. The majority of the patients die within two years of birth when the muscles of their respiratory system are no longer able to support breathing. The X-linked form of the disease is carried by unsuspecting mothers and passed on to their sons.

A new study published in the January 10 issue of the American Journal of Human Genetics reports the first documented mutations of the gene (known as UBE1) in humans. 

“After 15 years of research, being able to finally identify this gene that appears to account for a large number of families afflicted with this disease is truly remarkable,” says Miller School Dean Pascal J. Goldschmidt, M.D.

The study was funded in part by the Dr. John T. Macdonald Foundation, the Muscular Dystrophy Association, and the Families of SMA. “We are extremely grateful for the support we’ve received,” says Lisa Baumbach-Reardon, Ph.D., associate research professor of pediatrics and senior author of the study. “We are now working on a diagnostic test for infants that we hope will become part of routine newborn screening.”

The discovery received major media coverage, with articles in The Washington Post, USA Today, U.S. News & World Report, The Miami Herald, and Forbes, as well as stories on ABC, NBC, CBS, and FOX television affiliates.