William S. Sly, M.D. » Investigators

Cardiovascular Research Interests:

Primary area of research:

• Cardiovascular consequences of lysosomal storage diseases

Related areas of research:

• Enzyme transport across the blood-brain barrier
• Role of carbonic anhydrases in cardiovascular (capillary) function

Summary of cardiovascular research:

We have studied lysosomal storage diseases for over 30 years, focusing on MPS VII or Sly disease as a model for studies of pathophysiology and therapy. Recent studies of lysosomal storage disorders have implicated inflammatory mediators triggered by glycosaminoglycan storage in fibrosis, cell death, and functional abnormalities of the heart and blood vessels. These secondary consequences of storage account for much of the disease pathology and provide new therapeutic targets to modify the course of the disease. They also provide important biomarkers to gauge the effectiveness of standard treatments like enzyme replacement therapy.