Sihoun Hahn, MD, Director of the Wilson Disease Center of Excellence at Seattle Children’s Research Institute, gives an overview of Wilson disease.
As Dr. Hahn explains, Wilson disease is a genetic disorder caused by mutations on the ATP7B gene. These mutations cause excessive copper to accumulate in the body, particularly in the liver and brain. Although the copper accumulation begins at birth, symptoms do not appear until late childhood or early adolescence. By that time, patients often have serious, permanent effects, including liver failure or neurological deterioration.
Dr. Hahn has been studying Wilson disease for over 30 years which is what inspired him to develop a potential newborn screening test for this disease. The test is scheduled to be evaluated in a pilot study by the Washington State Department of Health by the end of the year. If the study is successful, Dr. Hahn’s test could soon be used to diagnose infants across the country with this life-threatening, but easily-treatable, disease. If approved, Dr. Hahn’s screening method could also be used to diagnose at least three other rare conditions — X-linked agammaglobulinemia, Wiskott-Aldrich syndrome and Adenosine deaminase deficiency.
