Christiane Auray-Blais is the Director of the Quebec Mass Neonatal Urinary Screening Program for hereditary metabolic disorders. She holds a PhD in Radiobiology from the Université de Sherbrooke and Postdoctoral studies from Duke University Medical Center, NC. She has a Master’s degree in Health Law from the Faculty of Law at the Université de Sherbrooke. She is the author of 200 publications, abstracts and articles. She is a Professor in the Medical Genetics Division in the Pediatrics department at the Faculty of Medicine and Health Sciences in Sherbrooke. She is the Scientific Director for the Waters-CHUS Expertise Centre in Clinical Mass Spectrometry

Overload diseases or lysosomal diseases include more than 50 different heritable metabolic diseases. One of these, Fabry disease, is linked to the X chromosome and is caused by a deficiency of the enzyme alpha-galactosidase A. More than 660 mutations have been identified to date. Clinical manifestations are numerous and occur at the cardiac, nephrologic, central nervous system, dermatological, gastroenterological and other levels. Biomarkers are needed to screen patients with this severe disease, to monitor treatment and to assess the course of the disease.