The National Heart, Lung, and Blood Institute (NHLBI)-supported Pediatric Cardiac Genomics Consortium recently released its first dataset into the NIH's database of Genotypes and Phenotypes (dbGaP), enabling any researcher to analyze the genes of children with congenital heart diseases on a scale that has never before been possible. This genomic data will help inform future research and may help advance treatment for people born with congenital heart diseases—potentially serious or life-threatening structural heart problems that affect more than 40,000 babies in the United States each year. The release includes whole exome sequencing, genotyping, and targeted resequencing data from hundreds of participants.
The Pediatric Cardiac Genomics Consortium (PCGC) is a multi-center translational research group investigating the genetic causes of congenital heart disease, the most common type of birth defect, and how those causes can influence health outcomes. Studying the genomes of a large number of people with congenital heart disease is critical because many genes are involved and the defects caused by any one gene may be relatively rare. Furthermore, people with the same congenital heart defect may each have a different genetic cause. The PCGC is making strides toward better understanding the genetics of congenital heart disease by recruiting more than 5,000 participants in its first two years, with the intention of enrolling many more during the next three years.
Discovering how a genetic defect leads to a heart defect requires a greater understanding of how that gene functions as the heart develops. The Cardiovascular Development Consortium, a sister consortium of the PCGC within the NHLBI's Bench to Bassinet program, uses basic science techniques to learn about the complex regulatory networks and pathways that affect cardiac development. Its datasets and other resources are also available to the public.