Our Purpose

Congenital heart defects (CHDs) are the most common birth defects, affecting 1 in 100 newborns and are the leading cause of deaths attributable to congenital anomalies. The reported birth prevalence of CHD has increased over the last decade which may reflect improved detection or a changing genetic pool related to improved survival of patients with CHD into the reproductive age group. Currently, one in 85 children and one in 250 adults live with CHD. Overall, there are ~20 million adults with CHD around the world. While technologic advances have led to earlier diagnosis and improved survival, serious heart defects continue to have a significant impact on the health of affected individuals. Despite the growing health burden, CHD has remained a neglected area of study.  The lack of knowledge of the genetic basis of CHD has seriously hampered our ability to screen, prevent, risk stratify patients and develop effective therapies targeted at the underlying cause of the defect. Two recent advances in technology have revolutionized the field of bio-medical research and created a new era in understanding complex birth defects: (i) the ability to detect genetic variations efficiently on a genome wide basis, and (ii) the ability to reprogram somatic cells into an embryonic phenotype to model human disease and study the pathobiology of the disease process.   

Our Network will utilize advanced genomic and stem cell technologies to identify novel gene-environment interactions that cause congenital heart disease (CHD) that will guide us in the development of new strategies for prevention, diagnosis and therapy.  We have assembled a team of established researchers who will interact as part of this Network to rapidly achieve the research goals. The wealth of data generated from this Network and the biologic samples will be made available as a resource to researchers within and outside the network. The network infrastructure will enable the conduct of population based studies in other cardiac malformations in the future, while providing the GenomeHeart network training opportunities for training in the core areas. This will create a generation of well-trained clinician-scientists that can contribute to research into understanding the basis of cardiac malformations.

Home  |   Who We Are  |   Our Purpose  |   Researchers  |   Publications  |   Affiliations