Genetic basis of epilepsy
Our laboratory is interested in discovering the genetic basis of musculoskeletal and neurological disorders. Our research currently focuses on gene discovery for idiopathic clubfoot and adolescent idiopathic scoliosis, two conditions whose etiology is currently unknown. This research utilizes the large volume of patients with well-characterized musculoskeletal disease at St Louis Children’s Hospital in collaborative clinical and basic science studies. Linkage studies using high density SNP microarray data are currently being performed, with future plans to perform genome-wide association studies. Through this approach, our laboratory recently identified a mutation in the homeodomain-containing transcription factor PITX1 that causes clubfoot and a variety of limb abnormalities in a large family. Environmental and genetic modifiers of the PITX1 phenotype are now being analyzed in mouse models of human. Other projects in the laboratory include genetic study of several large families with familial sleepwalking, and a large Indiana Amish family with multiple sclerosis and Hodgkins lymphoma.