Grant: Operating Grant

Between 3 to 5% of births are affected by congenital malformations and 20 to 30% of infant deaths are due to genetic disorders. Understanding genetic traits associated with congenital disorders is critical for early diagnosis and improving treatments. This represents an enormous task and major efforts should be dedicated to defining the genetic anomalies responsible for congenital malformations. One of the major difficulties is that genetic anomalies are not restricted to the genes themselves and can affect regulatory elements that control gene activity. These regulatory elements can be located far from the gene(s) they control. Understanding mechanisms that control gene activity is essential to help unraveling the etiology of congenital disorders. Mutations affecting the Hox gene family were previously identified in numerous congenital disorders and it is assumed that much more disorders are linked to improper Hox genes activity. The aim of this research proposal is to identify genetic parameters that are critical for ensuring stringent control of the activity of Hox genes, which in turn should be valuable to improve diagnosis and help improving treatments of Hox related genetic disorders.