The genetic regulation of musculoskeletal and ventricular development and homeostasis, focused on elucidation of mechanisms of adolescent idiopathic scoliosis and cartilage degeneration.
It is estimated that adolescent idiopathic scoliosis (AIS) effects 3% of the pediatric population worldwide. In the United States alone, health care costs associated with AIS amount to an estimated three billion dollars annually. In some cases, the progression of these spine deformities can be quite severe necessitating surgical correction to improve compromised pulmonary, neurological, and ambulatory function. Despite this significant burden to patients, parents, and health care systems, there is limited understanding of the genetics or pathogenesis of AIS. In part, this is due to a lack of good, genetically tractable models of scoliosis. Our research will generate these models and begin to provide mechanistic insight for the genetic basis of spine development and disease. We use multi-tiered approach, combining zebrafish and mouse models, informed by human genomics, with the goal to inform human disease and help to ameliorate these musculoskeletal disorders.