The study of human genetic disorders often entails the exploration of cell and animal models to recapitulate tissue development and dissect disease mechanisms. Thus, Human Genetics and Cell/Developmental Biology are intimately linked, as these areas share a common interest — to address how specific cellular phenotypes arise in a developmental context. From a geneticist’s perspective, invaluable insights into pathogenic mechanisms and treatment possibilities can be obtained from base research on cellular and developmental processes; in turn, cell/developmental biology benefits from investigation of human genetic disorders, including gene discovery and genotype-phenotype associations, functional investigation of disease-causing variants, functional genomics, etc.
Craniofacial and neurodevelopmental disorders are among the top causes of death and burden to patients, families and societies worldwide. Despite advances in gene variant discovery with the use of new sequencing technology, addressing the mechanisms by which genetic and/or epigenetic variants lead to phenotypic outcome remains challenging. To dissect disease mechanisms, interaction between the fields of Human Genetics and Cell/Developmental Biology is crucial, yet, oftentimes limited. The goal of this Research Topic is to further bridge the gap between these disciplines by bringing together research that contributes to the understanding of disease pathology through investigation of cellular and/or developmental mechanisms, with particular focus on craniofacial and neurodevelopmental disorders.
This collection welcomes research on the cellular/developmental processes associated with craniofacial or neurodevelopmental disorders. Article types may include, but are not limited to Original Research, Methods, Reviews or Perspectives, involving disease-relevant cell lines, animal models or other methods to bring forward novel insights into the etiology of these conditions. We also welcome insights into the ontogenetic link between craniofacial and nervous system development, which is a growing field of interest and may underpin several genetic conditions in which both processes are affected.
The articles may include the following topics:
-Mechanisms of development, including cell growth, migration, differentiation, specification and patterning
-Disease modeling with cellular and/or animal models
-Epigenetics/epigenomics
-Gene-environment interactions and their effects on development
-Maternal-fetal interface during development
-Development or improvement of disease models
-Possibilities for treatment and prevention
The study of human genetic disorders often entails the exploration of cell and animal models to recapitulate tissue development and dissect disease mechanisms. Thus, Human Genetics and Cell/Developmental Biology are intimately linked, as these areas share a common interest — to address how specific cellular phenotypes arise in a developmental context. From a geneticist’s perspective, invaluable insights into pathogenic mechanisms and treatment possibilities can be obtained from base research on cellular and developmental processes; in turn, cell/developmental biology benefits from investigation of human genetic disorders, including gene discovery and genotype-phenotype associations, functional investigation of disease-causing variants, functional genomics, etc.
Craniofacial and neurodevelopmental disorders are among the top causes of death and burden to patients, families and societies worldwide. Despite advances in gene variant discovery with the use of new sequencing technology, addressing the mechanisms by which genetic and/or epigenetic variants lead to phenotypic outcome remains challenging. To dissect disease mechanisms, interaction between the fields of Human Genetics and Cell/Developmental Biology is crucial, yet, oftentimes limited. The goal of this Research Topic is to further bridge the gap between these disciplines by bringing together research that contributes to the understanding of disease pathology through investigation of cellular and/or developmental mechanisms, with particular focus on craniofacial and neurodevelopmental disorders.
This collection welcomes research on the cellular/developmental processes associated with craniofacial or neurodevelopmental disorders. Article types may include, but are not limited to Original Research, Methods, Reviews or Perspectives, involving disease-relevant cell lines, animal models or other methods to bring forward novel insights into the etiology of these conditions. We also welcome insights into the ontogenetic link between craniofacial and nervous system development, which is a growing field of interest and may underpin several genetic conditions in which both processes are affected.
The articles may include the following topics:
-Mechanisms of development, including cell growth, migration, differentiation, specification and patterning
-Disease modeling with cellular and/or animal models
-Epigenetics/epigenomics
-Gene-environment interactions and their effects on development
-Maternal-fetal interface during development
-Development or improvement of disease models
-Possibilities for treatment and prevention