Researchers at Shriners Hospitals for Children - Canada Discover Cause of Debilitating Bone Disease

Published: Feb 12, 2013

MONTREAL, Feb. 12, 2013 /CNW Telbec/ - Shriners Hospitals for Children® - Canada is the first, worldwide, to identify the genetic defect underlying a painful bone disease that causes an unusual series of symptoms including severe tooth decay, osteoporosis and spine fractures in teenagers. Led by Frank Rauch, M.D., a pediatrician, and Pierre Moffatt, Ph.D., a basic scientist, at Shriners Hospitals for Children —Canada, the team discovered that a part of the RUNX2 gene was duplicated, and therefore caused a disease called metaphyseal dysplasia with maxillary hypoplasia and brachydactyly or MDMHB. They were able to link the unusual series of symptoms observed in patients to the changes in observed in the RUNX2 gene, which is essential for creating bone forming cells. In doing so, they established that these changes in the RUNX2 gene result in disordered bone cell production which is the cause of MDMHB. The discovery is published in The American Journal of Human Genetics this month.

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