Creating new tools for understanding skeletal disease in MPS IVA

Animal models and cell-based models have proven invaluable in furthering our understanding of the natural progression of MPS disease and in assessing the efficacy of various therapeutic approaches. Studies in our laboratory using a feline model of MPS VI directly led to the translation of enzyme replacement therapy into clinical practice for MPS VI and the related MPS types I and II. Unfortunately, no comparable system exists for MPS IVA. Our understanding of disease progression as a result is poor and hampers our ability to design and evaluate therapy that specifically targets MPS IVA sites of pathology in particular tissues within the joint. In this study a mouse model of MPS IVA and a cell-based model of MPS IVA will be developed and then used to evaluate a gene therapy approach to correcting disease and to determine how key developmental pathways are regulated in MPS IVA in particular the formation of cartilage cells.

–¬†Dr. Ainslie Derrick-Roberts

Genetics and Molecular Pathology, North Adelaide, SA, Australia