from the Center for Lysosomal Storage Diseases, Children's Hospital of the Johannes Gutenberg University, Mainz, Germany has been engaged in the research of lysosomal storage diseases for many years and has been at the forefront of exploring treatment options such as enzyme replacement, small molecules and gene therapy.

a clinician-scientist at the Biochemical Diseases Division at BC Children’s Hospital. Her expertise in multidisciplinary diagnostics and her interest in evidence based treatments of rare diseases is integral to developing registries and research databases to evaluate treatment outcomes for rare diseases. As pillars of the TIDE-BC initiative, she has initiated the PDE Registry and lysine restriction trials, as well as created the 1st ever WebApp to support the diagnostic protocol for treatable metabolic disorders causing intellectual disability.

a biochemist and lab scientist at the Medical University of Graz. Beside the biochemical and genetic diagnosis of lysosomal diseases. In particular, the question, how a single gene, GLB1, can cause two different lysosomal storage diseases, GM1 and MBD, has been a carreer-long, constant factor of interest. His contributions include the initial biochemical characterization of ß-galactosidase activity in Morquio B disease and clinical genetics of the GLB1 (ß-galactosidase) gene and the resultant phenotypes of GM1 gangliosidosis and Morquio B disease. Recently progress was made in the use of pharmacological chaperones in cell lines that express Morquio B and GM-1 characteristics.

from the Biochemical Diseases Division at BC Children’s Hospital is a leading authority on rare diseases with a focus on treatable inborn errors of metabolism. She is the project leader of TIDE BC, a Collaborative Area of Innovation in the British Columbia medical research environment aiming to provide timely diagnosis and treatments for children with treatable forms of intellectual disability.