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Our lab is interested in understanding the genetic and molecular basis of abnormal cardiac structure and function. The laboratory focuses on heterotaxy syndrome, a condition characterized by abnormal heart and embryonic axis patterning, and pediatric cardiomyopathy, a group of disorders characterized by abnormal cardiac function.
Heterotaxy syndrome is characterized by disturbances in embryonic laterality and midline establishment. Individuals with heterotaxy syndrome have a number of congenital malformations, the most detrimental of which are typically complex cardiovascular defects. In humans, mutations in ZIC3 cause X-linked heterotaxy (HTX-1, MIM 306955). Through animal models and in vitro studies, we are using HTX-1 as an inroad to study the fundamental mechanisms of early axis formation and its importance for subsequent cardiogenesis.
Cardiomyopathy is a disease that affects the heart muscle, causing it to function improperly. Pediatric cardiomyopathy has a variety of different causes, including viral infection, genetic syndromes, metabolic disease and mutations in genes encoding structural proteins. The majority of pediatric cardiomyopathy cases, however, are caused by genetic mutations. In collaboration with the Cardiomyopathy Clinic at Cincinnati Children’s, we are working to better understand the known genetic causes and mechanisms of pediatric cardiomyopathy and identify novel genetic causes of this disorder using advanced genomic technology.