Congenital Heart Disease Genetic Network Study

Congenital heart disease (CHD) is the most common birth defect with an incidence of 1 in 100 live births.  Many cytogenetic abnormalities have been associated with CHD.  Evidence is accumulating that many developmental defects can result from small genomic alterations invisible at the cytogenetic level, resulting in changes in copy number of contiguous genes.  As a site in the National Heart, Lung, and Blood Institute-sponsored Pediatric Cardiac Genomics Consortium (PCGC) we will work to help elucidate the potential genetic causes of congenital heart disease.  Our goal is to recruit 2000 fa

DHREAMS (Diaphragmatic Hernia Research and Exploration; Advancing Molecular Science)

The goal of this study is to identify genes that convey susceptibility to congenital diaphragmatic hernia in humans. The identification of such genes, and examination of their structure and function, will enable a delineation of molecular pathogenesis and, ultimately, prevention or treatment of congenital diaphragmatic hernia. There are many different possible modes of inheritance for congenital anomalies, including autosomal dominant, autosomal recessive, and multifactorial.

Master regulator analysis to prioritize treatment of residual disease following neoadjuvant chemotherapy for breast cancer in patient-derived tumor xenografts

Determine whether master regulator-directed therapy will demonstrate a greater reduction of tumor growth in patient-derived xenografts from tumors resistant to neoadjuvant taxane therapy [i.e. paclitaxel or docetaxel +/- adriamycin/cytoxan] as compared to taxane (i.e. control).