Funding outcome

Skeletal dysplasias are a diverse group of bone disorders that arise from impaired skeleton development. Affected children can die in utero or shortly after birth from respiratory failure due to an underdeveloped rib cage. Less severe cases are viable, but result in a general reduction in the size of the skeleton which presents its own challenges. To date, there is no means to prevent or treat the pre-or perinatal lethality caused by skeletal dysplasia. Bone growth anomalies can be diagnosed through prenatal ultrasound and thus can cause significant anxiety for the parents not knowing whether their child will survive. What if we could intervene in such cases to safely modify bone growth pathways to allow for sufficient development of the respiratory system or predict the severity of this condition. The first step towards these options starts with our understanding of skeletal development and identifying the mechanisms that contribute bone growth disorders. In this proposal we will identify the mechanisms that control development decisions needed to form the skeleton. In particular will we determine how the SOX9 gene, which causes the disorder Campomelic Dysplasia is able to perform discrete functions in the formation of the skeletal system.