Guest Editors
Dr. Feng Jiang
Email: fjiang7@stanford.edu
Affiliation: Department of Genetics, Stanford University, Stanford, United States
Homepage:
Research Interests: RNA editing, congenital heart disease, genetic variation
Summary
This special issue will focus on the genetic contributions to the pathogenesis of congenital heart disease (CHD). While CHD is caused by many factors, epidemiologic and family-based studies consistently suggest that genetic causes may underlie roughly 20–30% of CHD cases. As sequencing and genotyping technologies become faster, cheaper, and more clinically accessible, defining the genetic architecture of CHD is increasingly relevant for diagnosis, risk stratification, and precision care. Here, we welcome original research articles and well-curated case reports that advance the discovery and interpretation of genetic variation associated with CHD.
Contributions may include:
1) studies identifying novel pathogenic or likely pathogenic variants, gene discovery efforts, analyses of de novo and inherited variants, copy-number and structural variation, and genotype–phenotype correlations across CHD subtypes.
2) Submissions describing functional validation, mechanistic insights, and clinical potentials of CHD-relevant genetic variants.
3) Novel sequencing techniques, statistical methods, and multi-omics approaches in identifying and validating disease-relevant variants.
4) Reviews of the current field. Collectively, this issue aims to connect genetic discovery, mechanistic studies, and clinical translation, promoting improved counseling, earlier detection, and new avenues for therapeutic development in congenital heart disease.
Keywords
congenital heart disease, diagnosis, genetic variation, pathogenesis
Login
Register
Submit a Paper
Propose a Special lssue