About PCGC Research

The specific objectives of the PCGC are:

• Gene discovery of a complete repertoire of genes responsible for congenital heart disease through genomic analyses including copy-number variation, genome-wide association studies, and whole-exome sequencing,
• Identification of mutations responsible for congenital heart disease in large numbers of patients through sequencing of known congenital heart disease candidate genes, and
• Genotype/Phenotype correlation including long-term clinical follow-up of enrolled patients to determine how genetics influences the clinical outcome in congenital heart disease.

CHD GENES Study

To accomplish these goals, Consortium centers are recruiting individuals of all ages with congenital heart disease to obtain DNA as well as detailed phenotypic and clinical data, and will follow them over time to collect outcomes data. To learn more about this study, click on link for 'CHD GENES' below. The PCGC will use state-of-the-art genetic techniques to interrogate the genome for single nucleotide polymorphisms and structural variations and to conduct high-throughput, large-scale sequencing. The biological samples, which will remain linked to detailed clinical data, will continue to serve as a resource for long-term investigations into the genetic basis of pediatric cardiovascular disorders. The PCGC will significantly increase understanding of the causes and modifiers of pediatric cardiovascular pathology, and over time will enhance early detection, treatment and prevention of congenital heart disease in newborns, children, and adults.

CHD GENES