Wilson disease: discovery, advances, accomplishments

Wilson disease was discovered by American-born British neurologist Samuel Alexander Kinnier Wilson. His discovery of a new disorder that was characterized by neurological symptoms and cirrhosis of the liver is detailed in his thesis presented at the University of Edinburgh in 1911. He called the newly identified disease Progressive Lenticular Degeneration. It was later re-named Wilson disease (WD).
While Wilson never identified the cause, a toxin was suspected. Later, scientists discovered that excess dietary copper caused the bewildering symptoms.
Almost 50 years after the discovery, a treatment was discovered and Wilson disease became treatable, and not always fatal.
Fast forward to today, where there are now three FDA approved therapies for WD. Still, many patients get diagnosed too late to be helped by the treatments or treatments make the condition worse or cause too many side effects. Other treatments including gene therapy are under investigation.
The Wilson Disease Association was founded in 1983 to provide hope and support to people affected with Wilson disease worldwide so they can live the best quality of life possible.
There is still work to be done and we hope you will join in supporting the Wilson Disease Association.