I became interested in this disease after meeting a family with several affected children and came to realize that we have very little understanding of the cause of this disease. When I moved to Oregon Health Sciences University , I set my goal to find the gene for this disease as a step to understanding its cause. As a clinical geneticist and pediatrician, I felt that we might be able to use powerful genetic techniques to advance our understanding of this disease. Unfortunately, HSS is a disorder about which we have very little basic knowledge. Since Hallervorden-Spatz syndrome is an autosomal recessive condition, we know that it is caused by a changed or mutated gene that an affected person inherits from both parents.
Genes are codes or blueprints used by the body to make essential proteins.
The protein encoded by the HSS gene must have an important role in the brain since the gene change in HSS causes severe brain dysfunction. We must understand the normal and altered gene function before we can begin to develop rational therapies for this disorder. Our research into HSS is aimed at identifying the precise gene that is changed in this condition. In order to do this, we must determine where the HSS gene is localized. You can see that this would be quite a challenge.