Unraveling the Congenital Heart Disease Genome: From Gene Discovery to Clinical Innovation

Congenital heart diseases (CHD) is a major cause of morbidity and mortality of infants all over the world. Although next-generation sequencing has made genetic driver discoveries faster, there remains a major mismatch between identifying a variant and gaining a comprehensive mechanistic understanding of its effect, its contribution to complex genotype-phenotype associations, and its clinical application in meaningful clinical outcomes. The transformation between a sequence variant and a life-saving intervention is a multidisciplinary process, spanning between molecular genomics and state of the art clinical care.

This Research Topic seeks to bring together groundbreaking research across the whole spectrum of CHD research. Our Collection aims to not only explore the genomic and transcriptomic structure of CHD but also directly relates such findings to novel diagnostic, therapeutic and peri-operative approaches. Through this integration, we hope to accelerate progress toward precision medicine for CHD patients—from fetal life through adulthood.

To gather further insights into this rapidly evolving landscape, we encourage articles addressing, but not limited to, the following themes related to CHD:
- Novel gene and regulatory variant discovery
- Integrative multi-omics and bioinformatic approaches in genotype-phenotype mapping
- Functional modeling of CHD-associated genes in cellular and animal systems
- Translational research linking molecular mechanisms to diagnostic and therapeutic strategies
- Clinical implementation of genomics in surgery, perioperative care, and personalized medicine
- Genetic counseling and the communication of complex risk data for family planning

We welcome original studies, methods, and in-depth reviews addressing the genetic and mechanistic basis of CHD. We particularly encourage submissions that apply advanced omics technologies and computational approaches to bridge the gap between gene discovery and clinical translation.

Please ensure your manuscript aligns with our article type guidelines, as specified here (https://www.frontiersin.org/journals/genetics/for-authors/article-types), paying particular attention to the case report guidelines. Further information about our case report acceptance criteria can be found here (https://www.frontiersin.org/journals/genetics/sections/genetics-of-common-and-rare-diseases/about).