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Centre de recherche
Monday, July 5 2010
Press release

Researchers discover a gene related to brain development and human evolution

While researching the cause of a rare genetic disorder called microcephaly, in which head size is smaller than normal in affected children, researchers have identified a gene which appears to regulate the size of the brain. This is one of the key differences between humans and other mammals.

According to Dr. Mark Samuels, researcher in the Metabolic Health axis at the Research Centre of Sainte-Justine University Hospital Center, Associate professor of Medicine at the University of Montreal and Adjunct professor in Pathology at Dalhousie University in Nova Scotia, ‘this discovery is of significant interest as it gets to the heart of what makes us human’. Brain size and language acquisition represent key steps in the evolution of humans.

The discovery, published online on July 1 in the American Journal of Human Genetics, is the result of work led by Dr. Samuels and a team of scientists at Ste-Justine, the IWK Health Sciences Center, Dalhousie University and the Center for cancer research in Heidelberg, Germany.

Two different mutations were discovered by the team in Maritime Canadian patients with microcephaly, in a gene called CEP152, for which no previous genetic condition had been documented.

For this discovery, the multidisciplinary team at Sainte-Justine took advantage of expertise from Drs. Jacques Michaud in clinical genetics and neurodevelopment, Philip Awadalla in human population genomics, and Mark Samuels, principal investigator of the study and specialist in human genome analysis.

The study made use of traditional family-based genetic analysis methods, but the team is now implementing new advanced DNA sequencing technologies to analyze whole genomes, which will eventually permit the detection of mutations in individual patients, thereby helping identify the causes of many new genetic diseases. ‘New gene discoveries in the domain of pediatric medical genetics facilitate more rapid diagnosis. And the quicker a correct diagnosis is made, the quicker patient and family care can be optimized,’ says Dr. Samuels.

Partners in research
Atlantic Medical Genetics and Genomics Initiative, Genome Atlantic/ Genome Canada and other funding partners.

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Nicole Saint-Pierre
Communications Advisor
CHU Sainte-Justine
514 345-4931 ext. 2555

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