Adolescent idiopathic scoliosis (AIS), is a twisting spinal deformity that affects more than 29 million children worldwide and can lead to lung restriction, pain, and continuing deformity. By partnering with the NIH and other supporters, we are discovering the genetic factors that increase the risk that an individual will develop spinal deformity. These findings are providing a new understanding of disease origins that will ultimately improve our ability to diagnose and care for these children.
Early onset scoliosis (EOS) deformities are rare conditions in a heterogeneous group of children with a wide variety of available treatment options, both operative and non-operative. While children with later (adolescent) onset scoliosis certainly have decreased quality of life concerns because of their deformity, children with EOS have the potential for deformity progression that can be life-threatening because of the effects on the cardiopulmonary systems. While many of the patients we treat with EOS have known neuromuscular etiologies of their scoliosis, so-called idiopathic cases have remained a fascinating mystery for treating surgeons for decades, as the pathophysiology of their disease is completely unknown. Our team is applying comprehensive genomic strategies to identify the genetic factors and biologic mechanisms that underly iEOS, with the goal of improving diagnosis and care for these children.
A missense variant in SLC39A8
is associated with severe
Genomic characterization of the
adolescent idiopathic scoliosis-associated
transcriptome and regulome
Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel
adolescent idiopathic scoliosis susceptibility loci.