Research Topic

Role of Genetics and Epigenetics in Major Structural Malformations

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About this Research Topic

Structural birth defects are abnormalities in the structure of body parts, and the major structural dysplasia include heart defects, cranial and maxillofacial deformity, abnormal limbs, etc. Most structural defects develop in the earliest weeks of pregnancy when all of the organs and the skeleton are forming. ...

Structural birth defects are abnormalities in the structure of body parts, and the major structural dysplasia include heart defects, cranial and maxillofacial deformity, abnormal limbs, etc. Most structural defects develop in the earliest weeks of pregnancy when all of the organs and the skeleton are forming.

Structural malformations result from intrinsic abnormalities in one or more genetic programs operating in development, including genetic, genomic, and environmental causes. Genetic mutations and epigenetic modifications responsible for congenital diseases can now be physically linked to specific positions in the genome, enabling the systematic mapping of the molecular basis of polygenic diseases and other traits. To fully understand the mechanistic basis of a monogenetic or polygenic trait or biological process, it is necessary to account for interactions such as gene expression correlation or genetic epistasis among the individual trait-associated genes. Gene networks are an intuitive and useful abstraction for representing the totality of such gene–gene interactions for a trait.

A major goal in evolutionary and medical genetics is to identify the coordinated regulatory processes that differ between individuals as a function of their disease state, environment, or genetic background. From a medical perspective, identifying factors associated with changes in co-expression between healthy and sick individuals should point toward key regulatory changes driving phenotypic differences between groups. From an evolutionary perspective, work on decanalization indicates that gene regulatory networks evolve over many generations of stabilizing selection, and new mutations or novel environments may disrupt these fine-tuned connections.

This Research Topic aims to provide a fundamental presentation of the current status of our understanding on the molecular mechanisms, gene and cell therapy involved in major Structural Dysplasia. We welcome the submission of Original Research, Methods, Review and Mini-Review articles that cover, but are not limited to, the following topics:

-Congenital heart disease
-Cleft lip and palate
-Small ear deformity
-Neural tube deformity
-Cranial and maxillofacial deformity
-Abnormal limbs


Keywords: Genetics, Epigenetics, Mechanism, Gene and Cell therapy, Structural Dysplasia


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