Executive Director Passage Bio Philadelphia, Pennsylvania
Upon completion, the participants will be able to learn: • Improving diagnostic capabilities is an urgent unmet need for developing therapies for rare diseases • The limitations of the available diagnostic tests for lysosome storage diseases • Current efforts to improve the current diagnostic strategy through combination of genetics testing, and assessment of enzyme activity and substrate concentrations
Learning Objectives:
To gain awareness that improving diagnostic capabilities is an urgent unmet need for developing therapies for rare diseases
To understand the limitations of the available diagnostic tests for lysosome storage diseases
To discuss the current efforts towwards improving diagnostic strategy through combination of genetics testing, and assessment of enzyme activity and substrate concentrations
