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Wilson's Disease

Future Holds Potential for This Autosomal Recessive Disorder

Published in Gene Therapy Weekly, September 25th, 1995

Pinpointing the gene responsible for Wilson's Disease and discovering an animal model for research brightens the future of gene therapy for this disease.

Wilson's Disease is an autosomal recessive disorder of copper metabolism that is inherited. In normal individuals, the balance between intestinal absorption of dietary copper and hepatic excretion of excess copper in bile maintains copper homeostasis. Persons suffering from Wilson's disease are suffering from copper toxicity due to their body's inability to excrete it in the bile nor incorporate it into ceruloplasmin.

Jennifer A. Cuthbert describes the route to discovery of an animal model for...

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