Neurodevelopmental disorders (NDDs) often manifested with developmental delay (DD)/intellectual disability (ID), epilepsy, microcephaly, etc. Severe rare NDDs have a high possibility of hereditary tendency, especially in monogenic hereditary mode. Candidate gene approaches in undiagnosed NDD have been applied with the advent of next-generation sequencing technologies such as exome sequencing. Complex genetic mechanisms including genomic arrangement, non-coding variants including intronic and intergenic, regulatory elements, and others are also a vital part of the genetic causes which could be unraveled by genome sequencing, long-read sequencing, etc. Transcriptome-wise and proteomic-wise studies and multi-omics studies are increasingly performed to elucidate the further molecular mechanism. Immune-related genes and pathogens-related inflammatory pathways are also shown to lead to NDDs. Due to the genetic and clinical heterogeneities of NDDs, more research is focusing on the possible genotype-phenotype correlations and the genetic modifiers. Although there has been much progress in uncovering the genetic causes of NDDs, novel thoughts and methods are needed to deepen the understanding of the mechanisms of NDDs.
The goal of this Research Topic is to bring novel progress in the study of NDDs. Research on the elucidation of genetic mechanisms of NDDs by using cutting-edge techniques including pipeline development, new tool application in bioinformatic analysis, omics-based or other functional assays, and novel phenotype-related research for NDDs all fit our goal of this Research Topic. We welcome submissions on novel clinical phenotypes of causative genes and their correlated mechanisms, multi-omics studies to unravel the molecular mechanisms, the application of genome sequencing, third-generation sequencing methods to unravel the complex mechanisms, and genetic modifier research for NDDs. We welcome submissions of original research papers, brief research reports, reviews, methods, etc. that cover the topics above.
We welcome submissions regarding the novel research trends in the genetic mechanisms of NDDs. Areas to be covered in this Research Topic may include, but are not limited to:
1. the novel phenotypes of NDDs and their mechanisms
2. the transcriptome-wise studies to unravel the molecular mechanisms underlying NDDs
3. the proteomic-wise studies to unravel the molecular mechanisms underlying NDDs
4. cell-cycle regulation in NDDs
5. complex genetic mechanisms underlying rare NDDs
6. bioinformatic methods development in genome sequencing and long-read sequencing in NDDs research
7. genetic modifier research in NDDs
8. genetic or molecular studies that address the causal role of immune and infectious factors in NDDs.
Neurodevelopmental disorders (NDDs) often manifested with developmental delay (DD)/intellectual disability (ID), epilepsy, microcephaly, etc. Severe rare NDDs have a high possibility of hereditary tendency, especially in monogenic hereditary mode. Candidate gene approaches in undiagnosed NDD have been applied with the advent of next-generation sequencing technologies such as exome sequencing. Complex genetic mechanisms including genomic arrangement, non-coding variants including intronic and intergenic, regulatory elements, and others are also a vital part of the genetic causes which could be unraveled by genome sequencing, long-read sequencing, etc. Transcriptome-wise and proteomic-wise studies and multi-omics studies are increasingly performed to elucidate the further molecular mechanism. Immune-related genes and pathogens-related inflammatory pathways are also shown to lead to NDDs. Due to the genetic and clinical heterogeneities of NDDs, more research is focusing on the possible genotype-phenotype correlations and the genetic modifiers. Although there has been much progress in uncovering the genetic causes of NDDs, novel thoughts and methods are needed to deepen the understanding of the mechanisms of NDDs.
The goal of this Research Topic is to bring novel progress in the study of NDDs. Research on the elucidation of genetic mechanisms of NDDs by using cutting-edge techniques including pipeline development, new tool application in bioinformatic analysis, omics-based or other functional assays, and novel phenotype-related research for NDDs all fit our goal of this Research Topic. We welcome submissions on novel clinical phenotypes of causative genes and their correlated mechanisms, multi-omics studies to unravel the molecular mechanisms, the application of genome sequencing, third-generation sequencing methods to unravel the complex mechanisms, and genetic modifier research for NDDs. We welcome submissions of original research papers, brief research reports, reviews, methods, etc. that cover the topics above.
We welcome submissions regarding the novel research trends in the genetic mechanisms of NDDs. Areas to be covered in this Research Topic may include, but are not limited to:
1. the novel phenotypes of NDDs and their mechanisms
2. the transcriptome-wise studies to unravel the molecular mechanisms underlying NDDs
3. the proteomic-wise studies to unravel the molecular mechanisms underlying NDDs
4. cell-cycle regulation in NDDs
5. complex genetic mechanisms underlying rare NDDs
6. bioinformatic methods development in genome sequencing and long-read sequencing in NDDs research
7. genetic modifier research in NDDs
8. genetic or molecular studies that address the causal role of immune and infectious factors in NDDs.