Medical Professional Publications

Research Now: $2.7 Million NIH Grant Supports Congenital Heart Defect Genetics Study

The National Heart, Lung and Blood Institute has awarded Nationwide Children’s investigators a four-year, $2.7 million grant to examine genetic variants that may be linked to congenital heart defects.  

Investigators will perform whole exome sequencing studies among families and trios (affected child and both parents) to identify genetic sequence and structural variants.  Once identified, the variants will be filtered through a bioinformatics pipeline to help determine which variants are most likely to contribute to heart defects.  

Knowing these causal variants will allow investigators to further examine their impact on the developing heart using cell-based studies and animal models.  Once investigators confirm that the causal variants are also linked to heart defects in these lab-based studies, the team will sequence a larger group of individuals who have isolated heart defects to determine how frequently the identified gene mutations occur in a general heart defects population.  

The hope is to determine key genetic variants that make individuals more susceptible to specific congenital heart defects, allowing physicians to better predict patient outcomes.  

Center for Cardiovascular and Pulmonary Research Principal Investigators Kim McBride, MD, MS; Vidu Garg, MD; and Director of the Biomedical Genomics Core Peter White, PhD, are co-investigators on this grant.

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