Thanks to new genomics techniques, a team of researchers at the Sainte-Justine University Hospital Research Center and the University of Montréal have successfully identified mutations in POMC, the gene responsible for a rare type of adrenal insufficiency. They have potentially eliminated a lifetime drug prescription that two children with the disease had been receiving for 14 years.

The research conducted by Dr. Mark Samuels’ team, lead author of a paper published on the subject in January 2013 in the Journal of Clinical Endocrinology and Metabolism, is part of the Canadian Pediatric Genetic Disorders Sequencing Consortium (FORGE Canada), which is funded in part by the Canadian Institutes of Health Research (CIHR), Genome Canada and Génome Québec.

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