Metabolic diseases associatedwith deficiencies in lysosomal proteins such as the hydrolytic enzymes within the glycosphingolipid biosynthetic and metabolic pathways are collectively referred to as lysosomal storage disorders. Central nervous system involvement is a key hallmark of two thirds of this category of conditions. Gaucher's disease is the most common lysosomal storage disorder and has been linked to Bi-allelic GBA1 mutations. Neurodegeneration associated with this disease can be rapid and severe. Similarly, patients suffering from Tay–Sachs disease, a condition associated with mutations in deficiencies in β-hexosaminidase A activity, can experience severe neurodegeneration. Patients diagnosed with the pediatric version of this disease typically do not live beyond 2 to 4 years old. There are no treatments for these conditions. As part of our on-going effort to identify potential treatments for various lysosomal disorders, we have developed both novel high throughput screening systems and novel compounds capable of targeting key pathways in disease progression.
Moulder Center for Drug Discovery Research
Temple University School of Pharmacy
3307 N Broad Street
Philadelphia, PA 19140