Mark S. Sands, PhD

Research Interests

Metabolic Regulation

Research Category(ies)

Basic

Translational

Descriptor of Research

We study the pathophysiology and develop therapies for one of the largest classes of inherited metabolic disorders, lysosomal storage diseases. We have shown previously that lysosomal enzyme deficiencies affect many primary and secondary metabolic pathways. The four lysosomal storage diseases we are focusing on are: Krabbe disease (galactocerebrosidase deficiency), Infantile Neuronal Ceroid Lipofuscinosis (palmitoyl protein thioesterase-1 deficiency), Mucopolysaccharidosis types IIIB and VII (N-acetylglucosaminidase and beta glucuronidase deficiencies, respectively).