SLU researchers to test new screening method for MPS disorders among infants

Published on January 11, 2013 at 1:07 AM · No Comments

Researchers at Saint Louis University have received a five-year, $2.5 million National Institutes of Health grant to test a new method of screening newborns for a group of rare, but serious genetic disorders that affect approximately 200 babies born in the U.S., each year.

The proposed screening method, developed by SLU researchers, will use dried blood samples routinely taken at birth to test for Mucopolysaccharidoses (MPS) disorders. This group of chronic and progressive disorders occurs in approximately 1 in 25,000 births and include Morquio, Hunter and Sly Syndromes. Bone deformities, enlarged abdominal organs, hearing loss, vision impairment, valvular heart disease and mental retardation are common in people with MPS disorders. In nearly all cases, the disease is fatal with an average life expectancy of 10 to 20 years if untreated.

According to Adriana M. Montaño, Ph.D., associate research professor of pediatrics at SLU and principal investigator of the study, one challenge in treating patients with MPS disorders is diagnosing the disease before it has progressed too far. Most MPS patients are asymptomatic at birth, and do not receive a diagnosis until they are 4- to 5-years old.

"If our proposed screening method is successful, it would revolutionize the way we diagnose and treat patients with MPS disorders," said Montaño. "By the time most patients are diagnosed, the disease has already caused irreversible damage. If we were able to identify newborns with MPS disorders and begin treatment immediately, though, we could slow or even stop the progression of the disease, greatly improving their quality of life and possibly prolonging it."

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