Mass spectrometry for orphan diseases: from micromolecules to macromolecules

The presentation will focus on biomarker discovery, method development and validation for urine neonatal screening (micromolecules) and for different lysosomal diseases (macromolecules), all orphan (rare) diseases. The diversity of applications in mass spectrometry in the health field will also be presented.

Christiane Auray-Blais is the biochemist-in-charge of the Quebec Newborn Urinary Screening Program for Hereditary Metabolic Diseases in Sherbrooke, QC. Nearly 3,700,000 newborns have benefited from urine screening in the province of Quebec for disorders related to urinary amino acids and organic acids. She holds a PhD in radiobiology from the Faculty of Medicine and Health Sciences (FMSS) at the Université de Sherbrooke (U of S) and postdoctoral studies at Duke University Medical Center in North Carolina, USA. She holds a Master of Health Law from the Faculty of Law at the U of S and a Bachelor of Biochemistry-Physiology from the Faculty of Science at the U of S. She is the author of over 335 publications, book chapters, abstracts and articles. She is a full professor in the Genetics Service of the Department of Pediatrics at the FMSS and a researcher at the Clinical Research Center of the CHUS of Sherbrooke in the Mother-Child Axis. She is the scientific director of the Waters-CHUS Center of Expertise in Clinical Mass Spectrometry and director of the Waters Innovation Center in Sherbrooke. She is the principal investigator and co-investigator of numerous research grants. She has received awards for her involvement and expertise in preventive genetic medicine.