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Potential drug target in sight for rare genetic disease
Date:11/14/2013

re won't be a cure yet, but hopefully we can develop drugs to treat the less severe forms of the disease."

Yin added: "If we can treat people in the early stages of the disease, we may be able to lessen the severity of the disease and the mental delays."

James said this paves the way for the possibility of an alternative to enzyme replacement therapy, which involves weekly injections of a needle between a protective membrane and the spinal cord. The treatment is both painful and expensive, costing about $450,000 a year per patient.

The U of A team has been collaborating with researchers from Simon Fraser University and the University of British Columbia on their work. Haiying Bie, a post-doctoral fellow from the U of A, was also a key member of the team.

"We're very excited about this discovery," said James. "We've all worked very hard."

Approximately 70 diseases relate to improperly functioning enzymes and collectively affect 1 in 5,000 people around the world. These diseases are caused by a deficiency in the lysosomal enzymes responsible for breaking down large molecules in the body such as those that make up bones, cartilage or fat.


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Contact: Raquel Maurier
raquel.maurier@ualberta.ca
780-492-5986
University of Alberta Faculty of Medicine & Dentistry
Source:Eurekalert

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