Pediatric Cardiac Genomics Consortium



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The Pediatric Cardiac Genomics Consortium (PCGC) is a group of hospitals in the United States and United Kingdom begun in 2009 by the National Heart, Lung, and Blood Institute to learn more about why children are affected with congenital heart disease. Children’s Hospital of Philadelphia is one of 10 clinical PCGC centers participating in two large studies.

As part of the Bench to Bassinet Program, the PCGC is supported by appropriate cores and research infrastructure through funding from the NHLBI. The goal is to accelerate breakthroughs related to heart development and defects in children through collaborations of basic, translational, and clinical researchers.

Research Project Highlights

  • CHD GENES Study: This study is gathering DNA, phenotypic, and clinical data from individuals of all ages with congenital heart disease. 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.
  • CHD Brain and Genes Study: This study will investigate the genomic basic of neurodevelopmental and brain outcomes in congenital heart disease.
  • The PCGC also collaborates with a number of approved ancillary studies that are working to advance to pediatric cardiac genomics and would benefit from access to the data and biospecimens collected by the PCGC.