July 09, 2014

NEW YORK (GenomeWeb) – The National Institutes of Health will award up to $2.3 million next year to fund research centers that will join the Pediatric Cardiac Genomics Consortium, an initiative that targets the genetic causes of human congenital heart disease and seeks to connect genetic variants with clinical outcomes.

The funding, provided by the National Heart, Lung, and Blood Institute and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, will support up to five such centers in joining the consortium, NIH said yesterday.

The PCGC initiative was created in 2009 to establish a consortium of multidisciplinary research teams and scientific core facilities that would study genetic variants involved in CHD and eventually translate those findings into improved therapies, prevention strategies, and risk stratification. It is one part of NHLBI’s three-pronged Bench-to-Bassinet Program (B2B) program. The PCGC provides the B2B with genetics and genomics researchers, while the Cardiovascular Development Consortium provides basic scientists and the Pediatric Heart network provides clinical and observational study experts.

NIH said the PCGC’s multi-center approach had enabled the consortium to accumulate the largest collection of data and DNA from patients with CHD.

The research projects the new PCFC centers may pursue include, but are not limited to, determining if specific genetic variants are associated with relevant clinical outcomes; testing the hypothesis that variants in cis-regulatory regions or modifier genes contribute to CHD pathogenesis; studying the extent to which gene-environment interactions contribute to CHD; and using human induced pluripotent stem cells from CHD patients to determine the mechanistic steps that translate genetic variants into CHD.


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