Neurodevelopmental disorders (NDDs) are a class of disorders characterized by impaired development of the nervous system, which leads to a plethora of clinical signs including, but not limited to, intellectual disability, delayed motor and speech development, facial dysmorphism, and behavioral issues.
Recent advances in multi-omics approaches and cellular models of disease have been pivotal to gain insights into human health and disease. Their concerted application in the field of NDDs has led to the identification of transcriptional dysregulation and chromatin perturbation as key features of NDDs. However, the precise mechanisms leading to these dysfunctions and their consequences still need to be clarified in order to open perspectives for translational approaches.
The aim of this Research Topic is to provide a perspective on the advances on the clinical and molecular characterization of genes and proteins associated with NDDs.
We welcome articles in the form of original research, brief reports, literature reviews, and perspective/opinions pointing towards interesting insights or new biological observations with a particular focus on the following topics:
- Studies on cellular models of NDDs, such as patient-derived or genome edited iPSc and organoids
- Application of new methodologies/algorithms to investigate the molecular consequences of mutations (particularly in the context of gene expression or chromatin conformation) and to predict disease genes
- Identification of frequently altered biological pathways
- Genotype-phenotype correlations of known and new disease genes
- Specific syndromes of interest includ Cornelia de Lange syndrome, Coffin-Siris syndrome, KBG syndrome, and Rubinstein-Taybi syndrome
Please Note: Descriptive studies (e.g. gene expression profiles, or transcript, protein, or metabolite levels under particular conditions or in a particular cell type) and studies consisting solely of bioinformatic investigation of publicly available genomic / transcriptomic data do not fall within the scope of the journal unless they are expanded and provide significant biological or mechanistic insight into the process being studied.
Neurodevelopmental disorders (NDDs) are a class of disorders characterized by impaired development of the nervous system, which leads to a plethora of clinical signs including, but not limited to, intellectual disability, delayed motor and speech development, facial dysmorphism, and behavioral issues.
Recent advances in multi-omics approaches and cellular models of disease have been pivotal to gain insights into human health and disease. Their concerted application in the field of NDDs has led to the identification of transcriptional dysregulation and chromatin perturbation as key features of NDDs. However, the precise mechanisms leading to these dysfunctions and their consequences still need to be clarified in order to open perspectives for translational approaches.
The aim of this Research Topic is to provide a perspective on the advances on the clinical and molecular characterization of genes and proteins associated with NDDs.
We welcome articles in the form of original research, brief reports, literature reviews, and perspective/opinions pointing towards interesting insights or new biological observations with a particular focus on the following topics:
- Studies on cellular models of NDDs, such as patient-derived or genome edited iPSc and organoids
- Application of new methodologies/algorithms to investigate the molecular consequences of mutations (particularly in the context of gene expression or chromatin conformation) and to predict disease genes
- Identification of frequently altered biological pathways
- Genotype-phenotype correlations of known and new disease genes
- Specific syndromes of interest includ Cornelia de Lange syndrome, Coffin-Siris syndrome, KBG syndrome, and Rubinstein-Taybi syndrome
Please Note: Descriptive studies (e.g. gene expression profiles, or transcript, protein, or metabolite levels under particular conditions or in a particular cell type) and studies consisting solely of bioinformatic investigation of publicly available genomic / transcriptomic data do not fall within the scope of the journal unless they are expanded and provide significant biological or mechanistic insight into the process being studied.
