Ricerc@Sapienza

Idiopathic scoliosis (IS) is a spine deformity that affects approximately 3% of the population, and is characterized by a three-dimensional deviation of the spinal axis that occurs in the absence of underlying vertebral anomalies or obvious physiological defects. The pathogenesis of scoliosis is poorly understood and despite several evidences suggesting a role of genetics component in the pathogenesis, limited progresses have been accomplished in the identification of the causative genes.
Next generation sequencing (NGS) has revolutionized medical genetics: it is accelerating the research about rare-genetic disease and in the future it will facilitate clinical diagnosis and personalized medicine. Exome sequencing techniques have been proven as useful technique to specifically define IS-associated genetic variations in familial cases of scoliosis.
The aim of the proposed research is to perform a clinical and genetic study in a multigenerational family with several members affected by a severe form of scoliosis. We will study molecular bases of idiopathic scoliosis by using a whole exome sequencing approach on affected family members in order to provide useful information on dysregulated cellular pathway and suggest altered mechanism that may underlie susceptibility also to sporadic condition.