Claude Laberge

TL;DR: The frequency of congenital hypothyroidism is about one in 7,000 births and the immunoassay is effective in detecting thyroid hormone abnormalities with an acceptable percentage of false positive measurements; no false negative results have occurred.

TL;DR: A genome-wide scan for susceptibility loci for bipolar affective disorders in families derived from a rather homogeneous population in the Province of Québec found presumed linkages found in the region of chromosome 12q23-q24.

TL;DR: The CaG study is one of the few population-based cohorts in the world where blood is stored not only for DNA and protein based science but also for gene expression analyses, opening the door for multiple systems genomics approaches that identify genetic and environmental factors associated with disease-related quantitative traits.

TL;DR: The first public consultation for the creation of a large-scale genetic database, the Quebec CARTaGENE project, is presented in order to gauge whether the general public is receptive to the project.

TL;DR: It is confirmed that the primary defect in the acute form of hereditary tyrosinemia is an absence of FAH, and the data suggest that both clinical forms of the disease have a different molecular basis.