Dr. Ware’s research focuses on the genetic and developmental basis of pediatric heart disease. The two main areas of interest are disorders of cardiac function (cardiomyopathies) and structure (congenital heart disease). The laboratory utilizes animal models to investigate the developmental mechanisms and pathobiology of these disorders. The lab is specifically interested in developmental pathways important for normal left-right patterning and cardiac looping during embryogenesis. Translational research on congenital heart defects aims to investigate and identify novel genes underlying cardiovascular malformations using genome-wide analyses. High-priority candidate genes identified by this approach are validated using high-throughput screens in Xenopus, with novel candidates being further evaluated in mouse models of disease. Dr. Ware also coordinates the Cytogenomics of Cardiovascular Malformations Consortium, a highly collaborative alliance of outstanding academic pediatric cardiovascular genetic centers that have developed a clinical cytogenetic registry with deep cardiac phenotyping. Research efforts in cardiomyopathy are focused on identifying novel causes of pediatric cardiomyopathy, delineating genetic modifiers utilizing genomic technologies and deep phenotyping approaches, and developing improved methodologies for functional annotation and validation of genetic variants.
Stephanie M. Ware, MD, PhD