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Researchers go global on genes for the advancement of heredity research

Montreal, QC – A new website that lists the different genetic mutations responsible for several hereditary diseases has been created. The website is a result of collaboration between McGill University and the international consortium Human Variome Project and has the objective of sharing knowledge on the genes among medical researchers around the world.

The Ataxia of Charlevoix-Saguenay Foundation participated in completing the listing of the mutations on the gene SACS responsible for the ataxia of Charlevoix-Saguenay. “We are please with this exchange of knowledge,” says Jean Groleau, president of Ataxia Charlevoix-Saguenay Foundation. “The Ataxia of Charlevoix-Saguenay is a rare disorder found mostly in Quebec but we now know that it exists elsewhere in the world. We hope that such an international collaboration will assist in increasing our knowledge on this disease and other genetic disorders.”

The website can be consulted at