Wilson Disease is a disease that is inherited a pattern of inheritance, inherit two altered (mutated) copies of genes, one from each parent which develops this disease. Wilson disease causes a persons body to store to much of the mineral copper in the body. Copper than builds upp in the liver, brain, eyes, and other organs. The extra copper can lead up to organ damage which then may cause death. The genetic abnormality is caused by variants (mutants) in the ATP7B gene, this gene provides instructions for making protein called copper. There are a few treatments for Wilson disease, depending on the case is and if there is an acute liver failure or severe cirrhosis they can do a liver transplant, they can also go about removing the excess copper from the body and reduce the intake of food that is rich in copper. Doctors usually prescribe two drugs, D-Penicillamine (Cuprimine) and Trientine (Syprine). As of today the current state of research for Wilson Disease focuses on the potential of fetal cells and other in vito methods to expand liver cell populations.
Resources: About Wilson Disease (genome.gov)
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