Course description

This 2 day course in lysosomal storage disorders is aimed at those clinicians with a basic knowledge of these disorders who are training or working in this field. This course will encompass both adult and childhood disease and so is suitable for practitioners in both areas. Speakers draw from local, national and international expertise, and the course is intended to be interactive, with all participants urged to bring a case presentation.

LEARNING OBJECTIVES:

• Basic understanding of lysosomal function in health and disease.
• Understanding of how LSDs present clinically.
• Appreciation of the diagnostic pathway in a lab and the limitations of the various tests involved.
• Understand the more common LSDs (MPS disorders, Gaucher disease, Fabry disease, Pompe disease and the Niemann- Pick diseases) and the complications associated with these conditions.
• An appreciation of the common therapies used to treat LSDs and their limitations, including enzyme replacement therapy, stem cell transplants and substrate reduction therapy.
• Awareness of the potential therapies of the future, including gene therapy, chaperones and stop-codon read through drugs.

Willink Biochemical Genetics Unit

The Willink Biochemical Genetics Unit was first established in the Royal Manchester Children’s Hospital by George Komrower in 1961 and is now a major centre for the diagnosis and treatment of patients with inborn errors of metabolism.

In 2009 the Unit moved into new premises to form part of the Department of Genetic Medicine within St Mary’s Hospital in Manchester. The Unit has a long standing clinical & research interest in lysosomal disorders.