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New discovery prevents symptoms of rare genetic disorder
Date:12/2/2010

A new study offers hope for children born with a rare genetic disease, according to a paper published by the American Association for the Advancement of Science.

The research was led by Dr. Matthew Ellinwood, a veterinarian and animal science professor at Iowa State University, in collaboration with Dr. Patricia Dickson at the Harbor-UCLA Medical Center, with colleagues at the Iowa State College of Veterinary Medicine, the University of Tennessee, St. Louis University and the University of Pennsylvania. Their work was published in the AAAS journal Science Translational Medicine.

The research focused on a disorder called mucopolysaccharidosis type I, or MPS I, which is caused by the lack of a key enzyme that breaks down substances the body needs to help build normal nerves, bone, cartilage, tendons, corneas, skin and connective tissue.

The researchers demonstrated that beginning replacement of the enzyme shortly after birth prevented irreversible damage caused by the disease. Previous studies on older subjects were only able to reduce MPS I symptoms with enzyme replacement therapy. Especially important was the prevention of clinical signs of brain, heart and bone disease.

"This study, for the first time, outlines the potential to fully treat mucopolysaccharidosis type I using current technology and medicines, and prevent what might otherwise be the fatal or seriously debilitating consequence of this inherited disease," Ellinwood said.

"This study will strengthen the need and demand for neo-natal screening for this rare disorder. Overall, we feel our discoveries outline tremendous improvements for the treatment of these sorts of rare genetic disorders generally and for the treatment of MPS I specifically," said Ellinwood, who has been studying the disease for 12 years in dogs, which also suffer from the disorder.

His past work helped identify a genetic mutation that led to a DNA testing program for the S
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Contact: Matthew Ellinwood
mellinwo@iastate.edu
515-294-5136
Iowa State University
Source:Eurekalert

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